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Gene: Ptms MGI:1916452

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Gene Summary

Name:
parathymosin
Synonyms:
2610009E16Rik

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
decreased thigmotaxis Ptmstm1.1(KOMP)Wtsi HET Early adult 2.57×10-06
decreased exploration in new environment Ptmstm1.1(KOMP)Wtsi HET Early adult 3.54×10-05
increased circulating phosphate level Ptmstm1.1(KOMP)Wtsi HET Early adult 1.07×10-06
hyperactivity Ptmstm1.1(KOMP)Wtsi HET Early adult 1.96×10-21
preweaning lethality, incomplete penetrance Ptmstm1.1(KOMP)Wtsi HOM   Early adult 0.00
abnormal behavior Ptmstm1.1(KOMP)Wtsi HET Early adult 2.58×10-06

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Bone  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Peyer's patch  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote 50% (1 of 2)
Ear N/A heterozygote 50% (1 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote Ambiguous
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 50% (1 of 2)
Tail N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

Adult LacZ

LacZ Images Section

44 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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Sleep Wake

Wake state (bmp file)

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

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PDF thumbnail PDF
Electroretinography 2

Rod and cone PDF

4 Images

View images

Human diseases caused by Ptms 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.

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Schizophrenia 15
Hyperactivity OMIM:613950
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hypoparathyroidism, Familial Isolated, 1
Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Hyperlysinemia, Cognitive impairment OMIM:238700
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Autoimmune Hypoparathyroidism
Confusion, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoca... ORPHA:36913
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia OMIM:605899
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Hartnup Disorder
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Cognitive impairment OMIM:612462
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Depres... OMIM:261600
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Pseudohypoparathyroidism Type 1B
Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc... ORPHA:94089
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior OMIM:239500
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment OMIM:103580
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyperkalemia, H... ORPHA:94093
Autosomal Dominant Hypocalcemia
Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotional lability ORPHA:428
Pseudohypoparathyroidism Type 1C
Calcinosis, Confusion, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic te... ORPHA:79444
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity, Hypertriglyceridemia OMIM:615924
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Landau-Kleffner Syndrome
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Memory impairm... ORPHA:98818
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Pseudohypoparathyroidism Type 1A
Calcinosis, Confusion, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic te... ORPHA:79443
Dent Disease 2
Elevated circulating creatine kinase concentration, Cognitive impairment, Hypophosphatemia OMIM:300555
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Aggressive behavior ORPHA:2382
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S... OMIM:615516
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors OMIM:619467
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen ORPHA:94059
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Linear Verrucous Nevus Syndrome
Mental deterioration, Hypophosphatemia ORPHA:2611
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Hemorrhagic Fever-Renal Syndrome
Confusion, Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia, Agitation ORPHA:340
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Confusion, Abnormal fear-induced behavior, Abnormal circulating porph... ORPHA:100924
Cystinosis
Hypokalemia, Polydipsia, Abnormal repetitive mannerisms, Hypophosphatemia ORPHA:213
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Transient hyperphenylalaninemia, Aggressive behavior OMIM:612716
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Hyperphosphatemia, H... ORPHA:466650
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting OMIM:618314
Citrullinemia Type Ii
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper... ORPHA:247585
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Depression OMIM:600740
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Irritability, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... OMIM:620242
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Vitamin D-Dependent Rickets, Type 2A
Irritability, Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injuriou... ORPHA:449291
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia OMIM:275000
Hyperparathyroidism, Neonatal Severe
Calcinosis, Polydipsia, Hypercalcemia, Hypophosphatemia OMIM:239200
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... ORPHA:157215
Hypocalcemic Vitamin D-Dependent Rickets
Irritability, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypokalemia, Cognitive impairment, Hypophosphatemia, Polydipsia ORPHA:411629
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:241530
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Progressive language deterioration, Attention deficit hyperac... OMIM:610042
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Cognitive impairment, Attention defi... ORPHA:43
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, Mental deterioration, Low frustration tolerance, Abnormal tem... ORPHA:163681
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:307800
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... OMIM:619743
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Cystinosis, Nephropathic
Hyponatremia, Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Hypomagnesemia, Re... OMIM:219800
Argininemia
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Hyperargininemia OMIM:207800
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Depression, Hypophosphatemia, Self-injurious behavior, Hypokalemia, ... ORPHA:534
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Impulsivity, Dysphagia, Mental deterioration, Emotional labi... OMIM:610217
Dent Disease 1
Hypophosphatemia OMIM:300009
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:99880
Parathyroid Carcinoma
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:143
Opsismodysplasia
Hypophosphatemia OMIM:258480
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... ORPHA:3337
Alport Syndrome 3A, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Pearson Syndrome
Dysphagia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hyperalaninemia ORPHA:699
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
Raine Syndrome
Hypophosphatemia OMIM:259775
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity OMIM:620047
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936

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 Ptms

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 Ptms.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ptmstm1.1(KOMP)Wtsi Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Ptmstm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Ptmstm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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