Gene Summary

Name:
period circadian clock 2
Synonyms:
mPer2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating alkaline phosphatase level Per2tm1a(EUCOMM)Hmgu HOM Early adult 2.34×10-05
abnormal coat/hair pigmentation Per2tm1a(EUCOMM)Hmgu HOM Early adult 1.51×10-06
abnormal behavior Per2tm1a(EUCOMM)Hmgu HOM Early adult 2.94×10-05
increased lean body mass Per2tm1a(EUCOMM)Hmgu HOM Early adult 2.02×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Per2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Per2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Advanced Sleep Phase Syndrome, Familial, 1
OMIM:604348

The table below shows human diseases predicted to be associated to Per2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Cheilitis Glandularis
Abnormal salivary gland morphology, Squamous cell carcinoma, Thick lower lip vermilion, Neoplasm ORPHA:1221
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Brooke-Spiegler Syndrome
Basal cell carcinoma, Trichoepithelioma, Skin appendage neoplasm, Abnormality of the submandibula... ORPHA:79493
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Syndromic X-Linked Intellectual Disability 7
Tooth malposition, Hypoplasia of penis, Abnormal dental morphology, Obesity, Sparse body hair, Hy... ORPHA:85274
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Bardet-Biedl Syndrome 5
External genital hypoplasia, Cognitive impairment, Obesity, Hypogonadism, Micropenis OMIM:615983
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Widely spaced teeth, Difficulty walking, I... OMIM:300148
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... ORPHA:891
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Leptin Deficiency Or Dysfunction
Polyphagia, Decreased testicular size, Obesity, Hypogonadism, Primary amenorrhea, Micropenis OMIM:614962
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Narcolepsy 3
Narcolepsy OMIM:609039
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Enuresis, Inflexible adherence to routines, Obesity, Motor stereotypy, Self... OMIM:613670
Variant Abeta2M Amyloidosis
Abnormal salivary gland morphology, Multiple bony cystic lesions, Intestinal perforation, Chronic... ORPHA:314652
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
11Q22.2Q22.3 Microdeletion Syndrome
High, narrow palate, Abnormal social behavior, Compulsive behaviors, Short attention span, Hemang... ORPHA:444002
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Bardet-Biedl Syndrome 10
Renal cyst, Obesity, Renal insufficiency, Hypogonadism OMIM:615987
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
48,Xxyy Syndrome
Tall stature, Hypoplasia of penis, Ataxia, Joint hypermobility, Taurodontia, Azoospermia, Carious... ORPHA:10
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o... ORPHA:261529
Severe Intellectual Disability And Progressive Spastic Paraplegia
Everted upper lip vermilion, Difficulty walking, Short philtrum, High palate, Waddling gait, Exce... ORPHA:280763
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters... ORPHA:40923
Luscan-Lumish Syndrome
High anterior hairline, Advanced ossification of carpal bones, Hirsutism, Overgrowth, Polyphagia,... OMIM:616831
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... ORPHA:79414
Bardet-Biedl Syndrome 16
External genital hypoplasia, Renal cyst, Cognitive impairment, Obesity, Hypogonadism, Stage 5 chr... OMIM:615993
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Broad-based gait, Hyperactivity, Polyphagia, Short attention span, Obes... ORPHA:411515
Narcolepsy Type 1
Transient global amnesia, Restless legs, Male sexual dysfunction, Obesity, Precocious puberty, No... ORPHA:2073
Obesity And Hypopigmentation
Obesity, Red hair OMIM:620195
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Al Amyloidosis
Abnormal salivary gland morphology, Autonomic erectile dysfunction, Nephrotic syndrome, Dysphagia... ORPHA:85443
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme... ORPHA:33445
Cortisone Reductase Deficiency 1
Infertility, Hirsutism, Precocious puberty, Oligomenorrhea, Obesity, Alopecia OMIM:604931
Schaaf-Yang Syndrome
Inability to walk, Abnormality of the philtrum, Polyphagia, Impulsivity, Camptodactyly, Arthrogry... OMIM:615547
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia, Hypogonadism OMIM:617119
Narcolepsy 1
Narcolepsy OMIM:161400
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Long philtrum, Thin vermilion border, Increased body weight, Impulsivity, Synophrys, Gait disturb... ORPHA:589905
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Increased body weight, Impulsivity, Cognitive impairment, Hypogonadism, Sm... ORPHA:398069
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis, Decreased testicular size, Obesity, Primary amenorrhea, Cryptorchidism, Micropenis,... OMIM:610628
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal hair quantity, High palate, Abnormal testis morphology, Low posterior hairline, Obesity,... ORPHA:2233
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Neurofibroma
Spinal meningioma, Spinal neurofibroma, Peripheral schwannoma, Palmar neurofibroma, Multiple inte... ORPHA:252183
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
High, narrow palate, Premature ovarian insufficiency, Obesity, Ataxia, Unsteady gait, Loss of amb... OMIM:618124
Griscelli Syndrome Type 1
Premature graying of hair, White hair, Hyperlipidemia, Iris hypopigmentation, Partial albinism ORPHA:79476
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the dentition, Renal cyst, Obesity, Hypogonadism, Cry... OMIM:615982
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadism, Small scrotum, External genital hypoplasia, Premature pubarc... ORPHA:398079
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:277580
Chung-Jansen Syndrome
Long philtrum, Thin vermilion border, Short philtrum, High palate, Impulsivity, Synophrys, Obesit... OMIM:617991
Narcolepsy 7
Narcolepsy OMIM:614250
Lynch Syndrome
Neoplasm of the stomach, Neoplasm of the pancreas, Intestinal polyposis, Neoplasm of the skin, Ma... ORPHA:144
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Polyphagia, Renal hypoplasia, Obesity, Overfriendliness, Smooth philtrum, Attention... OMIM:620439
Benign Schwannoma
Intestinal polyposis, Peripheral schwannoma, Scleral schwannoma, Abnormal esophagus morphology, S... ORPHA:252164
Prader-Willi Syndrome Due To Imprinting Mutation
External genital hypoplasia, Hypopigmentation of hair, Polyphagia, Obesity, Hypogonadotropic hypo... ORPHA:177910
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Increased body weight, Decreased body weight, Abnormality of ... ORPHA:2298
Polycystic Ovary Syndrome 1
Hirsutism, Enlarged polycystic ovaries, Oligomenorrhea, Obesity, Amenorrhea OMIM:184700
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Abnormal pancreas morphology, Siala... ORPHA:449432
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Reduced social reciprocity, Polyphagia, Aggressive behavior ORPHA:329249
48,Xxxy Syndrome
Tall stature, Small scrotum, Abnormal social behavior, Azoospermia, Delayed eruption of teeth, Ab... ORPHA:96263
Kallmann Syndrome
Breast hypoplasia, Reduced bone mineral density, Erectile dysfunction, Anterior hypopituitarism, ... ORPHA:478
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Red hair, Hypopigmentation of the skin, Failure to thrive, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Red hair, Hypopigmentation of the skin, Failure to thrive, Obesity ORPHA:71526
Morbid Obesity And Spermatogenic Failure
Obesity, Infertility, Oligozoospermia, Azoospermia OMIM:615703
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Lead Poisoning
Anorexia, Cranial hyperostosis, Decreased male libido, Delayed eruption of teeth, Memory impairme... ORPHA:330015
Bardet-Biedl Syndrome 7
Obesity, Narrow mouth, Hypogonadism OMIM:615984
Vitreoretinochoroidopathy
Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti... OMIM:193220
Methionine Malabsorption Syndrome
Blue irides, Positive ferric chloride test, White hair OMIM:250900
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Polyphagia, Hype... OMIM:614963
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Male hypogonadism, High palate, Shuffling gait, Wrist flexion contracture, Obesity,... OMIM:300055
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Widely spaced teeth, Gait imbalance, Tongue thrusting, Hypopigmentation of hair, Hyperactivity, B... ORPHA:98794
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Breast hypoplasia, Reduced bone mineral density, Anterior hypopituitarism, Reduced circulating pr... ORPHA:2235
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ... ORPHA:3437
Angelman Syndrome Due To A Point Mutation
Widely spaced teeth, Gait imbalance, Tongue thrusting, Hypopigmentation of hair, Broad-based gait... ORPHA:411511
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:177901
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Azoospermia, Low posterior hairline, Hypergonadotropic hypogonadism, Obesity... ORPHA:2183
Wilson Disease
Difficulty walking, Arthritis, Increased body weight, Failure to thrive, Weight loss, Abnormality... ORPHA:905
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:98793
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased susceptibility to fractures, Neuroendocrine neoplasm, Memory impairment, Macronodular a... ORPHA:189427
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:177904
Bardet-Biedl Syndrome 9
Polydipsia, Renal insufficiency, Polyphagia, Obesity, Truncal obesity, Irregular menstruation OMIM:615986
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size, Obesity, Polycys... ORPHA:3085
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Hypoplasia of penis, Abnormality of the philtrum, Osteoporosis, Abnor... ORPHA:3409
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Decreased testicular size, Eunuchoid habitus, Obesity, Sparse body hair, Hyp... ORPHA:2234
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Fine hair ORPHA:2221
Biemond Syndrome Type 2
Obesity, Hypogonadotropic hypogonadism, Hypogonadism, Hypospadias ORPHA:141333
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Nail dystrophy, Microdontia, Ureterocele, Sparse axillary hair, Urethral stenosis, Transverse vag... OMIM:604292
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Thin vermilion border, Nail dystrophy, Increased body weight, Hirsutism, Low posterior hairline, ... OMIM:300860
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Tall stature, Polyphagia, Obesity OMIM:618406
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth hormone stimulatio... ORPHA:91348
Angelman Syndrome
Widely spaced teeth, Precocious puberty in females, Tongue thrusting, Broad-based gait, Hyperacti... ORPHA:72
Radio-Tartaglia Syndrome
Highly arched eyebrow, Dental crowding, Impulsivity, Wide mouth, Dysphagia, Ataxia, Long philtrum... OMIM:619312
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cranial hyperostosis, Decreased response to growth hormone stimulation test, High palate, Gait di... ORPHA:457240
46,Xy Sex Reversal 1
Gonadal dysgenesis, Tall stature, Abnormal female external genitalia morphology, Abnormal male ex... OMIM:400044
X-Linked Intellectual Disability, Cabezas Type
Thick lower lip vermilion, Short philtrum, Hypoplasia of penis, Hyperactivity, Cachexia, Broad-ba... ORPHA:85293
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Hyperlipidemia, Iris hypopigmentation, Parti... ORPHA:79477
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Microdontia, Ureterocele, Sparse axillary hair, Sparse hair, Transverse vaginal septum, Decreased... OMIM:129900
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shuffling gait, Obesit... ORPHA:3077
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Aggressive behavior, High palate, Organic aciduria, Long eyelashes, Carious teeth, Obesity, Ataxi... OMIM:620191
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:614072
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... OMIM:176270
Aromatase Deficiency
Osteopenia, Tall stature, Male infertility, Delayed epiphyseal ossification, Macroorchidism, post... ORPHA:91
Igg4-Related Thyroid Disease
Euthyroid goiter, Sialadenitis, Abnormal pituitary gland morphology, Nodular goiter, Goiter, Panc... ORPHA:64744
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Pituitary hypothyroidism, Polyphagia, Hypergonadotropic hypogonadism, De... ORPHA:66628
Melioidosis
Prostatitis, Foot osteomyelitis, Parotitis, Osteoarthritis, Septic arthritis, Abnormal parotid gl... ORPHA:31202
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Short philtrum, Abnormal vagina morphology, Facial hirsu... ORPHA:247768
Smith-Magenis Syndrome
Orofacial cleft, Everted upper lip vermilion, Hyperactivity, Head-banging, Increased body weight,... OMIM:182290
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Pituitary hypothyroidism, Polyphagia, Hypergonadotropic hypogonadism, De... ORPHA:179494
Obesity Due To Sim1 Deficiency
Memory impairment, Polyphagia, Cognitive impairment, Obesity, Attention deficit hyperactivity dis... ORPHA:369873
Bardet-Biedl Syndrome 8
Obesity, Hypospadias, Hypogonadism OMIM:615985
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Obsessive-compulsive trait, Abnormal temper tantrums, Impulsivity, Cryptorchidism, Gait disturban... ORPHA:500055
Wagro Syndrome
Agitation, Hypoplastic female external genitalia, Dental crowding, Compulsive behaviors, Polyphag... OMIM:612469
Oculocutaneous Albinism Type 1
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... ORPHA:352731
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Epiphyseal stippling, Increased body weight, Attention deficit hyperactivity disorder, Goiter, Sm... OMIM:274300
Lacrimoauriculodentodigital Syndrome
Orofacial cleft, Abnormal salivary gland morphology, Lacrimal gland aplasia, Abnormal dental enam... ORPHA:2363
Igg4-Related Kidney Disease
Acute kidney injury, Enlarged kidney, Prostatitis, Urethritis, Hematuria, Sialadenitis, Nephrotic... ORPHA:449395
Pseudohypoparathyroidism, Type Ia
Low urinary cyclic AMP response to PTH administration, Delayed eruption of teeth, Osteoporosis, C... OMIM:103580
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Hirsutism, Nephrolithiasis, Osteoporosis, Oligomenorrhea, Obesity... OMIM:219090
Hypothyroidism, Congenital, Nongoitrous, 6
Broad-based gait, Delayed eruption of teeth, Increased body weight, Macroglossia, Increased body ... OMIM:614450
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Mody
Neonatal hypoglycemia, Hypoinsulinemia, Retinopathy, Glycosuria, Hyperglycemia, Elevated hemoglob... ORPHA:552
Ataxia-Telangiectasia
Premature graying of hair, Failure to thrive, Multiple cafe-au-lait spots, Hypopigmentation of hair ORPHA:100
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Increased body weight, Progressive neurologic deterioration ORPHA:276608
Prader-Willi Syndrome Due To Translocation
Head-banging, Everted lower lip vermilion, Bifid uvula, Wide mouth, Alveolar ridge overgrowth, De... ORPHA:177907
Sarcoidosis, Susceptibility To, 1
Anorexia, Enlarged lacrimal glands, Abnormal salivary gland morphology, Hypercalciuria, Bone cyst... OMIM:181000
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Renal tubular acidosis, Myoglobinuria, Increased body weight, Hepatocellu... ORPHA:79240
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal salivary gland morphology, Abnormality of the submandibular gl... ORPHA:79078
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Abnormality of hair pigmentation, Elevated circulat... OMIM:618156
Insulinoma
Transient global amnesia, Neoplasm of the adrenal gland, Increased body weight, Polyphagia, Prima... ORPHA:97279
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Renal tubular acidosis, Myoglobinuria, Increased body weight, Esophageal ... ORPHA:264580
Senior-Loken Syndrome 9
Osteopenia, Nephronophthisis, Obesity, Hypogonadism, Stage 5 chronic kidney disease, Tubulointers... OMIM:616629
Pseudohypoparathyroidism, Type Ic
Low urinary cyclic AMP response to PTH administration, Delayed eruption of teeth, Osteoporosis, C... OMIM:612462
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Renal cyst, Cognitive impairment, Obesity, Hypogonadism, Stage 5 chronic ki... OMIM:615994
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Obesity, Cryptorchidism, Hypogonadism ORPHA:363741
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Obesity, Red hair, Fair hair OMIM:614613
Tatton-Brown-Rahman Syndrome
Widely-spaced maxillary central incisors, Aggressive behavior, Proportionate tall stature, Obesit... ORPHA:404443
Prolactinoma
Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism, Decreased female... ORPHA:2965
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Decreased response to growth hormone stimulation test, Narcolepsy, Compulsive behavio... ORPHA:293987
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Obesity, Abnormality of the... OMIM:194072
Proximal 16P11.2 Microdeletion Syndrome
Pyloric stenosis, Failure to thrive, Obesity, Cleft palate, Reduced social reciprocity, Motor ste... ORPHA:261197
Bdv Syndrome
Obesity, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism OMIM:619326
7Q11.23 Microduplication Syndrome
Hyperactivity, Joint hypermobility, Craniosynostosis, Aggressive behavior, Hypospadias, Short phi... ORPHA:96121
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Obesity, Red hair OMIM:609734
Carney Complex
Neoplasm of the stomach, Tall stature, Neoplasm of the pancreas, Ductal carcinoma in situ, Increa... ORPHA:1359
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the stomach, Pheochromocytoma, Increased body weight, Pulmonary carcinoid tumor, Adre... ORPHA:99889
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Cryptorchidism, Hypogonadism OMIM:601794
Angelman Syndrome
Widely spaced teeth, Broad-based gait, Hyperactivity, Protruding tongue, Obesity, Wide mouth, Ata... OMIM:105830
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... ORPHA:999
Kleefstra Syndrome
Hypoplasia of penis, Highly arched eyebrow, Everted lower lip vermilion, Aggressive behavior, Adv... ORPHA:261494
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Hypopigmentation of hair ORPHA:70472
Treacher Collins Syndrome 1
Cleft soft palate, Narrow mouth, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Cry... OMIM:154500
Sotos Syndrome
Narrow palate, Tall stature, Advanced eruption of teeth, High, narrow palate, High anterior hairl... OMIM:117550
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Kleefstra Syndrome 1
Hypospadias, Tracheobronchomalacia, Everted lower lip vermilion, Compulsive behaviors, Persistenc... OMIM:610253
Proprotein Convertase 1/3 Deficiency
Obesity, Villous atrophy, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:600955
Classic Phenylketonuria
Hyperphenylalaninemia, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:3440
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Low urinary cyclic AMP response to PTH adm... ORPHA:79444
Igg4-Related Ophthalmic Disease
Enlarged lacrimal glands, Prostatitis, Sialadenitis, Neoplasm of the lung, Lymphoma, Colon cancer... ORPHA:449563
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... OMIM:203100
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Agitation, Hypophosphatemic rickets, Increased body weight, Glycosuria... ORPHA:263455
Macrocephaly/Autism Syndrome
Large for gestational age, Overgrowth, High palate, Short attention span, Obesity, Long philtrum,... OMIM:605309
Hepatic Veno-Occlusive Disease
Increased body weight, Renal insufficiency ORPHA:890
Down Syndrome
Narrow palate, Aganglionic megacolon, Thick lower lip vermilion, Leukemia, Narrow mouth, Abnormal... ORPHA:870
Adrenocortical Carcinoma
Abnormality of reproductive system physiology, Increased body weight, Adrenocorticotropic hormone... ORPHA:1501
Cushing Disease
Amenorrhea, Memory impairment, Secondary amenorrhea, Intra-oral hyperpigmentation, Increased body... ORPHA:96253
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Low urinary cyclic AMP response to PTH adm... ORPHA:79443
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Freckling, F... OMIM:203300
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Sparse scalp hair, Failure to thrive, Generalized hype... ORPHA:3322
Carney Complex, Type 1
Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling OMIM:160980
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia, Retinal neovascularization, Retinal cotton wool spot, Abn... ORPHA:247691
Intellectual Developmental Disorder, Autosomal Dominant 29
Narrow palate, Long philtrum, Hyperactivity, Dental crowding, Hirsutism, High palate, Narrow mout... OMIM:616078
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Spinal cord tumor, Hyperactivity, Dental crowding, Impulsivity, Intestinal malrotation, Neoplasm,... ORPHA:353281
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, male, Bifid scrotum, Low posterior hairline, Cervix cancer, Hypospadias, Azo... ORPHA:1772
Bardet-Biedl Syndrome 1
High, narrow palate, Aganglionic megacolon, Gait imbalance, Dental crowding, Hirsutism, High pala... OMIM:209900
Ulnar-Mammary Syndrome
Breast aplasia, Hypoplasia of penis, Ectopic anus, Hypoplastic nipples, Anal atresia, Pyloric ste... ORPHA:3138
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf... ORPHA:3214
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Progressive psychomotor deterioration, Abnormal dental enamel morphology, Polyph... ORPHA:251004
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperactivity, Bifid scrotum, Impulsivity, Cognitive impairment, Ataxia, Broad philtrum, Joint hy... OMIM:619475
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Helsmoortel-Van Der Aa Syndrome
Enlarged kidney, Hyperactivity, Everted lower lip vermilion, Microdontia, Wide mouth, Dysphagia, ... OMIM:615873
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:618541
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... ORPHA:238468
Niemann-Pick Disease Type C
Abnormal social behavior, Compulsive behaviors, Gait disturbance, Cognitive impairment, Progressi... ORPHA:646
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613266
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair ORPHA:53271
Sheehan Syndrome
Breast hypoplasia, Reduced circulating prolactin concentration, Hyposthenuria, Pituitary hypothyr... ORPHA:91355
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Increased body weight, Hirsutism, Osteoporosis, Adrenal hyperplasia, Alopecia OMIM:615830
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Monosomy 9Q22.3
Large for gestational age, Basal cell carcinoma, Tall stature, Rhabdomyosarcoma, Long philtrum, O... ORPHA:77301
African Trypanosomiasis
Urinary incontinence, Akinesia, Difficulty walking, Alopecia, Infertility, Impotence, Abnormal pr... ORPHA:3385
Blau Syndrome
Abnormal salivary gland morphology, Limitation of joint mobility, Synovitis, Camptodactyly of fin... ORPHA:90340
Bardet-Biedl Syndrome
Childhood-onset truncal obesity, Hypoplasia of penis, Hypoplasia of the ovary, Dental crowding, M... ORPHA:110
1P21.3 Microdeletion Syndrome
Excessive shyness, Obesity, Wide mouth, Joint hypermobility, Self-injurious behavior, Abnormal ea... ORPHA:293948
Meningioma
Urinary incontinence, Transient global amnesia, Neoplasm of the tongue, Neoplasm of the skin, Imp... ORPHA:2495
Craniopharyngioma
Enlarged pituitary gland, Pituitary hypothyroidism, Polyphagia, Obesity, Hypogonadism, Hypopituit... ORPHA:54595
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased body weight, Increased urinary cortisol level, Osteop... OMIM:615954
1P36 Deletion Syndrome
Abnormal female external genitalia morphology, Hypoplasia of penis, Abnormal intestine morphology... ORPHA:1606
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98795
Distal Deletion 12Q
Ectopic kidney, Hyperactivity, Proportionate tall stature, Pituitary adenoma, Long philtrum, Fine... ORPHA:96149
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Osteopenia, External genital hypoplasia, Pathologic fracture, Gingival overgrowth, High palate, O... OMIM:614231
Bardet-Biedl Syndrome 12
Hydrometrocolpos, Hydroureter, Cognitive impairment, Obesity, Hydronephrosis, Hypogonadism, Vagin... OMIM:615989
Microcephalic Primordial Dwarfism, Dauber Type
Bilateral breast hypoplasia, Obesity, Primary amenorrhea ORPHA:319675
Turner Syndrome Due To Structural X Chromosome Anomalies
Reduced bone mineral density, Ectopic kidney, Low posterior hairline, Secondary amenorrhea, Abnor... ORPHA:99413
Turner Syndrome
Reduced bone mineral density, Ectopic kidney, Low posterior hairline, Secondary amenorrhea, Abnor... ORPHA:881
Mosaic Monosomy X
Reduced bone mineral density, Ectopic kidney, Low posterior hairline, Secondary amenorrhea, Abnor... ORPHA:99228
Monosomy X
Reduced bone mineral density, Ectopic kidney, Low posterior hairline, Secondary amenorrhea, Abnor... ORPHA:99226
Williams Syndrome
Hypoplasia of penis, Everted lower lip vermilion, Tracheoesophageal fistula, Microdontia, Joint s... ORPHA:904
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Urinary incontinence, Memory impairment, Ataxia, Narcolepsy, Mental deterioration ORPHA:314404
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hyperactivity, Hypoplastic philtrum, Wide mouth, Hypogonadism, Small scrotum, Hypospadias, Microp... OMIM:309580
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Lacrimal gland aplasia, Conical incisor, Xerostomia, Aplasia of the paro... OMIM:149730
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Dental crowding, Highly arched eyebrow, Impulsivity, Intestinal malrotation, Joint... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Dental crowding, Highly arched eyebrow, Impulsivity, Intestinal malrotation, Joint... ORPHA:353277
Syndromic Diarrhea
Trichorrhexis nodosa, Abnormality of iron homeostasis, Hypopigmentation of hair, Brittle hair, Ge... ORPHA:84064
Kikuchi-Fujimoto Disease
Anorexia, Oral ulcer, Enlargement of parotid gland, Ataxia, Weight loss, Alopecia ORPHA:50918
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Long eyelashes, Iris hypopigmentation, Me... ORPHA:79430
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Hypopigmentation of the skin, Giant melanosomes in me... OMIM:214500
Blue Diaper Syndrome
Blue urine, Increased body weight, Nephrocalcinosis ORPHA:94086
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Hypopigmentation of hair, Hypoproteinemia, Hypopigmentation of the skin, La... ORPHA:167
Sarcoidosis
Enlarged lacrimal glands, Renal insufficiency, Hypercalciuria, Alopecia, Parotitis, Bone cyst, Ne... ORPHA:797
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Vici Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Elevated circulating creatine kinase conc... OMIM:242840
Pallister-Hall Syndrome
Ectopic kidney, Hypothalamic hamartoma, Thyroid hypoplasia, Bifid uvula, Small scrotum, Accessory... ORPHA:672
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Cystinosis, Nephropathic
Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circulating carniti... OMIM:219800
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:163746
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Autosomal Recessive Faciodigitogenital Syndrome
Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak ORPHA:1974
Prader-Willi Syndrome
Failure to thrive, Hypopigmentation of the skin, Hypopigmentation of hair, Abdominal obesity ORPHA:739
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism ORPHA:2719
Degcags Syndrome
Premature graying of hair, Hypopigmentation of hair, Hyperbilirubinemia, Abnormal eyelash morphol... OMIM:619488
Alström Syndrome
Urinary incontinence, Precocious puberty in females, Tooth agenesis, Cognitive impairment, Ataxia... ORPHA:64
Menkes Disease
Woolly hair, Hypopigmentation of hair, Sparse hair ORPHA:565
Smith-Lemli-Opitz Syndrome
Elevated circulating 7-dehydrocholesterol concentration, Abnormal eyelash morphology, Hypopigment... ORPHA:818
Hellp Syndrome
Acute kidney injury, Proteinuria, Increased body weight, Hemoglobinuria ORPHA:244242
Advanced Sleep Phase Syndrome, Familial, 1
OMIM:604348

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Per2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Per2.

No publications found that use IMPC mice or data for Per2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Per2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Per2tm1c(EUCOMM)Hmgu Wild type floxed exon (post-Flp) Mice
Per2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Per2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter