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Gene: Erp44 MGI:1923549

Gene Summary

Name:

endoplasmic reticulum protein 44

Synonyms:

Txndc4, 1110001E24Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
increased lean body mass	Erp44^{tm1a(KOMP)Wtsi}	HET	Early adult	4.18×10^-05
preweaning lethality, incomplete penetrance	Erp44^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
increased bone mineral content	Erp44^{tm1a(KOMP)Wtsi}	HET	Early adult	1.22×10^-05

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X-ray

XRay Images Forepaw

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Legacy Phenotype Associated Images

Erp44^{tm1a(KOMP)Wtsi}
WT, Female, WTSI

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Erp44^{tm1a(KOMP)Wtsi}
HOM, Female, WTSI

Erp44^{tm1a(KOMP)Wtsi}
abnormal retinal blood vessel pattern, HET, Male, WTSI

Erp44^{tm1a(KOMP)Wtsi}
abnormal retinal pigmentation, HET, Female, WTSI

Human diseases caused by Erp44 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.

Human diseases associated with Erp44 (0 diseases)
Human diseases predicted to be associated with Erp44 (226 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Erp44 by phenotypic similarity.

Disease	Matching phenotypes	Source
Peeling Skin Syndrome 3	Abnormal hair morphology, Erythema, White scaling skin	OMIM:616265
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Peeling Skin Syndrome 5	Epidermal acanthosis, Scaling skin	OMIM:617115
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Keratosis Palmoplantaris Striata Ii	Epidermal acanthosis	OMIM:612908
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Epidermal acanthosis, Absent facial hair, Abnorma...	ORPHA:90368
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Short stature, Partial albinism	ORPHA:90023
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Concave nail, Erythema, Palmoplantar scaling skin, Scaling skin, Dry skin	ORPHA:530838
Peeling Skin Syndrome 1	Brittle hair, Short stature, Onycholysis, Nail dystrophy, Scaling skin	OMIM:270300
Acral Peeling Skin Syndrome	Erythema, Scaling skin, Hyperpigmentation of the skin, Excessive wrinkling of palmar skin	ORPHA:263534
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Scaling skin, Nail dystrophy, Sparse hair, Alopecia of scalp, D...	OMIM:604536
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Scaling skin	OMIM:105250
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Scaling skin	OMIM:113800
Idiopathic Localized Lipodystrophy	Erythema, Hypopigmentation of the skin, Scaling skin, Hyperpigmentation of the skin	ORPHA:90158
Acrokeratosis Verruciformis	Ridged nail, Epidermal acanthosis	OMIM:101900
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Absent pubic hair, Cutis laxa,...	ORPHA:2269
Ichthyosis Hystrix, Curth-Macklin Type	Scaling skin	OMIM:146590
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Epidermal acanthosis	OMIM:615028
Dowling-Degos Disease 4	Epidermal acanthosis	OMIM:615696
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Scaling skin	OMIM:617571
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Short stature, Albinism, Pallor, Hypopigmentation of the skin	ORPHA:2786
Acral Self-Healing Collodion Baby	Palmoplantar scaling skin, Erythema, Lack of skin elasticity	ORPHA:281127
Peeling Skin Syndrome 4	Nail dystrophy, Epidermal acanthosis, Scaling skin	OMIM:607936
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Hypermelanotic macule, Dry skin, Hypomelanotic macule, Scaling skin, Nail dystrophy, Fr...	OMIM:618373
Psoriasis 2	Epidermal acanthosis, Scaling skin	OMIM:602723
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Ichthyosis With Confetti	Hypoplastic nipples, Short stature, Scaling skin, Hypertrichosis	OMIM:609165
Bathing Suit Ichthyosis	Alopecia, Epidermal acanthosis, Palmoplantar scaling skin, Nail dystrophy, Scaling skin, Sparse hair	ORPHA:100976
Palmoplantar Keratoderma, Nagashima Type	Epidermal acanthosis	OMIM:615598
Lupus Erythematosus Tumidus	Scaling skin, Depigmentation/hyperpigmentation of skin	ORPHA:90283
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Erythema, Scaling skin, Abnormality of the nail	OMIM:607602
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Short stature	ORPHA:1355
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Verrucous Hemangioma	Epidermal acanthosis	ORPHA:464318
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Sparse eyebrow, ...	OMIM:613102
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Centrifugal Lipodystrophy	Alopecia, Erythema, Scaling skin	ORPHA:90156
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Oculocerebral Syndrome With Hypopigmentation	Growth delay, Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Peeling Skin Syndrome 6	Dry skin, Scaling skin	OMIM:618084
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Erythrokeratodermia Variabilis Et Progressiva 4	Erythema, Epidermal acanthosis	OMIM:617526
Familial Reactive Perforating Collagenosis	Spotty hyperpigmentation, Abnormal epidermal morphology, Abnormal fingernail morphology	ORPHA:79147
Ichthyosis, Annular Epidermolytic, 2	Erythema, Scaling skin	OMIM:620148
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Ichthyosis Vulgaris	Absent keratohyalin granules, Dry skin	OMIM:146700
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Epidermal acanthosis, Acantholysis, Leukonychia, Onycholysis, Scaling skin, Dry skin	OMIM:616295
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Facial erythema...	ORPHA:1010
Bazex Syndrome	Yellow nails, Nail dystrophy, Scaling skin, Lip hyperpigmentation	ORPHA:166113
Aicardi-Goutieres Syndrome 5	Dry skin, Scaling skin	OMIM:612952
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Woolly hair, Palmoplantar scaling skin,...	OMIM:605676
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Growth delay, Erythema, Dry skin, Scaling skin	OMIM:614457
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Scaling skin on fingertip, Epidermal acanthosis, Nail dystrophy, Onychogryposis	ORPHA:79395
X-Linked Dominant Chondrodysplasia Punctata	Short stature, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scal...	ORPHA:35173
Cutaneous Mastocytoma	Erythema, Scaling skin, Hyperpigmentation of the skin, Hypermelanotic macule	ORPHA:79455
Obesity And Hypopigmentation	Red hair, Overgrowth	OMIM:620195
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Ichthyosis, Congenital, Autosomal Recessive 6	Dry skin, Epidermal acanthosis, Scaling skin	OMIM:612281
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Short stature, Poliosis, Abnormal eyelash morphol...	ORPHA:3437
Recon Progeroid Syndrome	Short stature, Hyperconvex thumb nails, Absent lower eyelashes, Growth delay, Scaling skin, Dry s...	OMIM:620370
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
White Sponge Nevus 2	Epidermal acanthosis	OMIM:615785
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Singleton-Merten Syndrome 2	Psoriasiform lesion, Short stature	OMIM:616298
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Ichthyosis, Congenital, Autosomal Recessive 5	Epidermal acanthosis, White scaling skin	OMIM:604777
Basan Syndrome	Nail dystrophy, Epidermal acanthosis, Hypermelanotic macule	OMIM:129200
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Elastosis Perforans Serpiginosa	Epidermal acanthosis, Cutis laxa	ORPHA:79148
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Psoriasiform lesion, Scaling skin	ORPHA:284426
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Iris hypopigmentation	ORPHA:177910
Pemphigus Foliaceus	Skin vesicle, Erythema, Scaling skin, Acantholysis	ORPHA:79481
Atrophoderma Vermiculata	Abnormal epidermal morphology, Erythema	ORPHA:79100
Acute Radiation Syndrome	Hypopigmentation of the skin, Scaling skin, Skin ulcer, Hyperpigmentation of the skin	ORPHA:454831
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
Acute Generalized Exanthematous Pustulosis	Acantholysis, Scaling skin, Skin vesicle, Hyperpigmentation of the skin, Purpura	ORPHA:293173
Ectodermal Dysplasia/Short Stature Syndrome	Anonychia, Short stature, Nail dystrophy, Epidermal acanthosis	OMIM:616029
Huriez Syndrome	Epidermal acanthosis, Nail dystrophy, Small nail	OMIM:181600
Yemenite Deaf-Blind Hypopigmentation Syndrome	Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock	OMIM:601706
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Erythrokeratodermia Variabilis Et Progressiva 3	Erythema, Epidermal acanthosis, Leukonychia	OMIM:617525
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:277580
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Yellow nails, Onycholysis, Epidermal acanthosis, Nail dystrophy	OMIM:148700
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Epidermal acanthosis, Alopecia totalis	OMIM:300918
Lipoid Proteinosis Of Urbach And Wiethe	Patchy alopecia, Reduced epidermal extracellular matrix protein 1 protein expression	OMIM:247100
Mal De Meleda	Erythema, Epidermal acanthosis	ORPHA:87503
Epidermolytic Palmoplantar Keratoderma	Abnormal fingernail morphology, Epidermal acanthosis	ORPHA:2199
Neonatal Inflammatory Skin And Bowel Disease	Erythema, Horizontal eyebrow, Scaling skin, Slow-growing scalp hair, Chronic monilial nail infect...	ORPHA:294023
Congenital Disorder Of Glycosylation, Type If	Dry skin, Scaling skin	OMIM:609180
Myoectodermal Gonadal Dysgenesis Syndrome	Short stature, Highly arched eyebrow, Sparse eyebrow, Sparse pubic hair, Frontal upsweep of hair,...	OMIM:618419
Infantile Digital Fibromatosis	Epidermal acanthosis	ORPHA:199267
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Epidermal acanthosis, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:242300
Diffuse Cutaneous Mastocytosis	Scaling skin, Mixed hypo- and hyperpigmentation of the skin	ORPHA:79456
Vulvovaginal Gingival Syndrome	Ridged nail, Erythema, Epidermal acanthosis	ORPHA:83453
Olmsted Syndrome 2	Sparse hair, Woolly hair, Epidermal acanthosis, Alopecia universalis	OMIM:619208
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Ermine Phenotype	Hypopigmentation of hair, Short stature, Ocular albinism, Hypopigmented skin patches, Irregular h...	ORPHA:999
Acrokeratosis Verruciformis Of Hopf	Epidermal acanthosis, Acantholysis, Leukonychia, Nail dystrophy, Anonychia	ORPHA:79151
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Epidermal acanthosis, Thin nail, Short nail, Sparse eye...	OMIM:257980
Chronic Actinic Dermatitis	Progressive hyperpigmentation, Epidermal acanthosis, Hypopigmented skin patches	ORPHA:330064
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Patchy alopecia, Scaling skin, Alopecia universalis	OMIM:606367
Porphyria Cutanea Tarda	Hirsutism, Scaling skin, Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypertrichosis	ORPHA:101330
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Epidermal acanthosis, Thin nail, Abnormal hair morphology, Erythema, Growth delay, Smal...	OMIM:242100
Kid Syndrome	Epidermal acanthosis, Sparse eyelashes, Postnatal growth retardation, Scarring alopecia of scalp,...	ORPHA:477
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Short stature, Growth delay, Intrauterine growth retardation, Cafe-au-l...	OMIM:618541
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Ichthyosis, Congenital, Autosomal Recessive 7	Epidermal acanthosis	OMIM:615022
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Short stature, Generalized hypopigmentation of ...	ORPHA:3322
Mpdu1-Cdg	Scaling skin	ORPHA:79323
Obesity Due To Prohormone Convertase I Deficiency	Growth delay, Hypopigmentation of the skin, Red hair, Delayed puberty	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Growth delay, Hypopigmentation of the skin, Red hair, Delayed puberty	ORPHA:71526
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Ectodermal Dysplasia-Skin Fragility Syndrome	Short stature, Nail dystrophy, Scaling skin, Sparse hair, Alopecia universalis	ORPHA:158668
Seborrhea-Like Dermatitis With Psoriasiform Elements	Epidermal acanthosis	OMIM:610227
Palmoplantar Keratoderma, Punctate Type Ia	Epidermal acanthosis	OMIM:148600
Immunodeficiency 58	Psoriasiform lesion, Short stature, Scaling skin	OMIM:618131
Erythrokeratodermia Variabilis Et Progressiva 1	Epidermal acanthosis	OMIM:133200
Ichthyosis, Congenital, Autosomal Recessive 8	Erythema, Epidermal acanthosis	OMIM:613943
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Epidermal acanthosis	OMIM:615735
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormality of retinal pigmentation, Severe short stature, Abnormal eyelash morphol...	ORPHA:2526
Ichthyosis Prematurity Syndrome	Alopecia of scalp, Epidermal acanthosis, Hyperpigmentation of the skin	OMIM:608649
Proteus Syndrome	Epidermal acanthosis, Depigmentation/hyperpigmentation of skin	OMIM:176920
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Psoriasiform lesion	ORPHA:169154
Familial Benign Chronic Pemphigus	Skin vesicle, Erythema, Acantholysis	ORPHA:2841
Inflammatory Skin And Bowel Disease, Neonatal, 2	Long eyelashes, Epidermal acanthosis	OMIM:616069
Classic Phenylketonuria	Growth delay, Hypopigmentation of hair, Hypopigmentation of the skin, Lack of skin elasticity	ORPHA:79254
Ataxia-Telangiectasia	Hypopigmentation of hair, Short stature, Premature graying of hair, Delayed puberty, Multiple caf...	ORPHA:100
Autosomal Recessive Spastic Paraplegia Type 23	Silver-gray hair, Short stature, Vitiligo, Multiple lentigines	ORPHA:101003
Griscelli Syndrome Type 2	Hypopigmentation of hair, Partial albinism, Premature graying of hair, Petechiae, Iris hypopigmen...	ORPHA:79477
Acrodysostosis 2 With Or Without Hormone Resistance	Blue irides, Red hair, Mild short stature, Fair hair, Intrauterine growth retardation	OMIM:614613
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Riddle Syndrome	Erythema, Short stature, Scaling skin	ORPHA:420741
Oculocutaneous Albinism Type 1	White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect...	ORPHA:352731
Immunodeficiency, Common Variable, 8, With Autoimmunity	Growth delay, Psoriasiform lesion, Vitiligo	OMIM:614700
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion	ORPHA:163525
Graft Versus Host Disease	Scaling skin	ORPHA:39812
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Alopecia, Subungual hyperkeratosis, Perianal erythema, Short stature, Sparse scal...	OMIM:308205
Bacterial Toxic-Shock Syndrome	Ecchymosis, Scaling skin	ORPHA:36234
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Epidermal acanthosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair, Dry skin	OMIM:607626
Squalene Synthase Deficiency	Intrauterine growth retardation, Dry skin, Abnormality of hair pigmentation	OMIM:618156
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology	ORPHA:398189
Woodhouse-Sakati Syndrome	Alopecia, Growth delay, Scaling skin, Delayed puberty, Aplasia/Hypoplasia of the eyebrow	ORPHA:3464
Brittle Cornea Syndrome 1	Palmoplantar cutis laxa, Disproportionate tall stature, Red hair	OMIM:229200
Naxos Disease	Subungual hyperkeratosis, Curly hair, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Onychol...	OMIM:601214
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Freckling, Albinism, Ocular albinism, Me...	OMIM:203300
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis	OMIM:609638
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Restrictive Dermopathy	Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Sparse or absent eye...	ORPHA:1662
Psoriasis 14, Pustular	Erythema, Epidermal acanthosis, Nail dystrophy	OMIM:614204
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Few cafe-au-lait spots, Curly ha...	OMIM:619503
Superficial Epidermolytic Ichthyosis	Erythema, Acantholysis	ORPHA:455
Restrictive Dermopathy 1	Sparse eyelashes, Short nail, Absent eyelashes, Sparse eyebrow, Scaling skin, Intrauterine growth...	OMIM:275210
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen...	ORPHA:238468
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Parkes Weber Syndrome	Scaling skin, Skin ulcer	ORPHA:90307
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
Palmoplantar Carcinoma, Multiple Self-Healing	Epidermal acanthosis, Nail dystrophy	OMIM:615225
Rat-Bite Fever	Scaling skin	ORPHA:31205
Acrokeratoelastoidosis Of Costa	Epidermal acanthosis	ORPHA:38
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp...	ORPHA:3214
Darier-White Disease	Ridged nail, Hypermelanotic macule, Subungual hyperkeratotic fragments, Acantholysis	OMIM:124200
Autoinflammation With Arthritis And Dyskeratosis	Growth delay, Dry skin, Epidermal acanthosis	OMIM:617388
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Cole Disease	Epidermal acanthosis	OMIM:615522
Psoriasis-Related Juvenile Idiopathic Arthritis	Onycholysis, Psoriasiform lesion, Nail pits	ORPHA:85436
Ichthyosis, Congenital, Autosomal Recessive 9	Epidermal acanthosis	OMIM:615023
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Short stature, Woolly hair, Cafe-au-lait spot, Uncombable...	ORPHA:84064
Koolen-De Vries Syndrome	Hypopigmentation of hair, Dry skin, Short stature, Abnormality of hair texture	ORPHA:96169
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Punctate Palmoplantar Keratoderma Type 1	Abnormal epidermal morphology, Epidermal acanthosis, Nail dystrophy	ORPHA:79501
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Dry skin, Epidermal acanthosis	OMIM:618527
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411511
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Short stature, Epidermal acanthosis, Erythema, Mild intrauterine growth retardation, Sm...	OMIM:308050
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Short stature, Ocular albinism, Growth delay, Iris hypopigmentation	ORPHA:2719
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Hypopigmentation of hair, Short stature, Widow's peak, Coarse hair	ORPHA:1974
Prader-Willi Syndrome	Hypopigmentation of hair, Short stature, Iris hypopigmentation, Frontal upsweep of hair, Delayed ...	OMIM:176270
Chediak-Higashi Syndrome	Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy...	OMIM:214500
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98794
Pseudoxanthoma Elasticum	Civatte bodies, Cutis laxa	OMIM:264800
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Short stature, Intrauterine growth retardation, Stellate iris, Hypopigm...	ORPHA:177907
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Short stature, Delayed puberty, Hypopigmentation of the skin, Iris hypo...	ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Short stature, Delayed puberty, Hypopigmentation of the skin, Iris hypo...	ORPHA:98793
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, H...	ORPHA:79430
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Short stature, Delayed puberty, Hypopigmentation of the skin, Iris hypo...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Short stature, Delayed puberty, Hypopigmentation of the skin, Iris hypo...	ORPHA:177901
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Epidermal acanthosis	OMIM:612852
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair, Short stature	ORPHA:398069
Menkes Disease	Hypopigmentation of hair, Woolly hair, Sparse hair, Intrauterine growth retardation, Dry skin	ORPHA:565
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray...	ORPHA:163746
Brittle Cornea Syndrome	Abnormality of hair pigmentation	ORPHA:90354
Prader-Willi Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair, Short stature	ORPHA:739
Vici Syndrome	Hypopigmentation of hair, Albinism, Postnatal growth retardation, Ocular albinism, Hypopigmentati...	OMIM:242840
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398079
Degcags Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Synophrys, Lo...	OMIM:619488
Chédiak-Higashi Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl...	ORPHA:167
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Rhizomelia, Short stature, Abnormal eyelash morphology, Growth delay, I...	ORPHA:818
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Coarse hair, Epidermal acanthosis	ORPHA:83617
Cystinosis, Nephropathic	Hypopigmentation of hair, Short stature, Retinal pigment epithelial mottling, Growth delay, Pigme...	OMIM:219800

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 Erp44

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 Erp44.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Erp44^{tm1a(KOMP)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Erp44^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Erp44^{tm1a(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Erp44^{tm1a(KOMP)Wtsi}	PMC5827107

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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
Erp44^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Erp44^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Erp44^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Erp44^{tm357930(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Erp44 MGI:1923549

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

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Legacy Phenotype Associated Images

Human diseases caused by Erp44 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data