Gene Summary

Name:
protein tyrosine phosphatase domain containing 1
Synonyms:
N/A

IMPC Data Collections

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 phosphate level Ptpdc1tm1.1(KOMP)Vlcg HOM   Early adult 4.91×10-05
small testis Ptpdc1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal testis morphology Ptpdc1tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased bone mineral content Ptpdc1tm1.1(KOMP)Vlcg HOM Early adult 3.71×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 33.33% (1 of 3)
Aorta  Wholemount images  Section images heterozygote 100% (3 of 3)
Brain  Wholemount images heterozygote 100% (3 of 3)
Brown adipose tissue  Section images heterozygote 33.33% (1 of 3)
Cerebellum  Wholemount images  Section images heterozygote 100% (3 of 3)
Chest bone  Wholemount images heterozygote 66.67% (2 of 3)
Eye  Section images heterozygote 33.33% (1 of 3)
Gonadal fat pad  Section images heterozygote 33.33% (1 of 3)
Kidney  Wholemount images  Section images heterozygote 100% (3 of 3)
Mesenteric adipose tissue  Section images heterozygote 33.33% (1 of 3)
Midbrain  Wholemount images  Section images heterozygote 100% (3 of 3)
Olfactory lobe  Wholemount images  Section images heterozygote 100% (3 of 3)
Ovary  Section images heterozygote 33.33% (1 of 3)
Oviduct  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Pituitary gland  Wholemount images  Section images heterozygote 100% (3 of 3)
Spinal cord  Wholemount images  Section images heterozygote 100% (3 of 3)
Stomach  Section images heterozygote 100% (3 of 3)
Thyroid gland  Wholemount images heterozygote 0.0% (0 of 3)
Tongue  Wholemount images  Section images heterozygote 100% (3 of 3)
Trachea  Wholemount images  Section images heterozygote 100% (3 of 3)
Trigeminal V nerve  Section images heterozygote 33.33% (1 of 3)
Urinary bladder  Wholemount images  Section images heterozygote 100% (3 of 3)
Uterus  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Blood N/A heterozygote Not available
Bone marrow N/A heterozygote 0.0% (0 of 3)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 66.67% (2 of 3)
Cerebral cortex N/A heterozygote Not available
Colon N/A heterozygote 66.67% (2 of 3)
Diaphragm N/A heterozygote 0.0% (0 of 3)
Duodenum N/A heterozygote 0.0% (0 of 3)
Epididymis N/A heterozygote 0.0% (0 of 3)
Esophagus N/A heterozygote 0.0% (0 of 3)
Gall bladder N/A heterozygote Not available
Harderian gland N/A heterozygote 0.0% (0 of 3)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 66.67% (2 of 3)
Jejunum N/A heterozygote 33.33% (1 of 3)
Large intestine N/A heterozygote 66.67% (2 of 3)
Liver N/A heterozygote 0.0% (0 of 3)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 3)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 3)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 3)
Parotid gland N/A heterozygote 0.0% (0 of 3)
Penis N/A heterozygote 0.0% (0 of 3)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote 0.0% (0 of 3)
Quadriceps N/A heterozygote 0.0% (0 of 3)
Sciatic nerve N/A heterozygote 0.0% (0 of 3)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote 66.67% (2 of 3)
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 3)
Submandibular gland N/A heterozygote 0.0% (0 of 3)
Testis N/A heterozygote 0.0% (0 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Vagina N/A heterozygote 0.0% (0 of 3)
Vas deferens N/A heterozygote 33.33% (1 of 3)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 3)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.69% (4 of 577)
aorta 0.17% (1 of 582)
blood 0.0%
bone marrow 0.0%
brain 0.86% (5 of 583)
brainstem 0.35% (2 of 578)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cecum 5.71% (21 of 368)
cerebellum 0.52% (3 of 582)
cerebral cortex 0.34% (2 of 581)
chest bone Unavailable
colon 16.06% (22 of 137)
diaphragm 0.0%
duodenum 3.73% (5 of 134)
epididymis 13.89% (20 of 144)
esophagus 1.73% (7 of 404)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.34% (2 of 581)
hindlimb 0.0%
hippocampus 0.34% (2 of 585)
hypothalamus 0.34% (2 of 583)
ileum 13.77% (19 of 138)
jejunum 8.89% (12 of 135)
kidney 4.45% (26 of 584)
large intestine 5.34% (31 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 579)
lung 0.35% (2 of 573)
lymph node 0.18% (1 of 570)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.35% (2 of 574)
ovary 0.17% (1 of 577)
oviduct 0.0%
pancreas 0.86% (5 of 581)
parathyroid gland 0.18% (1 of 561)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 579)
peyers patch 0.0%
pituitary gland 0.17% (1 of 572)
prostate gland 2.08% (12 of 577)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 580)
small intestine 5.51% (32 of 581)
spinal cord 0.35% (2 of 578)
spleen 0.52% (3 of 580)
stomach 3.79% (22 of 580)
stomach pyloric region 0.0%
striatum 0.52% (3 of 578)
sublingual gland 0.0%
submandibular gland 1.43% (2 of 140)
testis 0.86% (5 of 581)
thymus 0.17% (1 of 579)
thyroid gland 2.94% (17 of 579)
tongue 3.65% (5 of 137)
trachea 0.52% (3 of 579)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.35% (2 of 579)
vagina 0.0%
vas deferens 4.68% (18 of 385)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

22 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

38 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Human diseases caused by Ptpdc1 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 Ptpdc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Pseudohypoparathyroidism, Type Ii
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypocalcemia, Hyperphos... OMIM:203330
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphatemia, Hypocalcemic se... OMIM:618883
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism, Male infertility, Hyperphosphatemia,... ORPHA:2239
Pseudohypoparathyroidism Type 2
Hypocalcemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hyperphosphate... ORPHA:94090
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Elevated circulating parathyroid hormone level, Osteopenia, Metacarpal periosteal thickening, Hyp... OMIM:617994
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypocalcemia, Hyperphos... OMIM:603233
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... OMIM:241520
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphate... OMIM:146200
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:614840
Calciphylaxis
Secondary hyperparathyroidism, Ectopic ossification, Hyperphosphatemia ORPHA:280062
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Decreased response to growth hormone stimulation test, Micropenis, Congenital hypop... OMIM:241410
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:94086
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Osteoporosis, Hypothyroidism, Hypocalcemic tetany... OMIM:612462
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Decreased response to growth ... ORPHA:94089
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypokalemia, Hypocalcemia, Incre... OMIM:601198
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Osteoporosis, Hypothyroidism, Hypocalcemic tetany... OMIM:103580
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Abnorma... ORPHA:457059
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Autoimmune Hypoparathyroidism
Hypocalcemia, Increased bone mineral density, Autoimmune hypoparathyroidism, Hypocalcemic tetany,... ORPHA:36913
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Hypophosphatemic Bone Disease
Hypophosphatemia, Osteomalacia, Rickets OMIM:146350
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Vitamin D-Dependent Rickets, Type 3
Elevated circulating parathyroid hormone level, Osteopenia, Hypophosphatemia, Hypocalcemia OMIM:619073
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypocalcemia, Hypoplasia of penis, Congenital hypoparathyroidism, Patchy oste... ORPHA:2323
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation OMIM:211900
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Infantile hypercalcemia, Parathyroid adenoma, Elevated circulating parathyroid ... ORPHA:99879
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Abnormal circulating lipid concentration, Erectile... ORPHA:481
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia, Osteomalacia, Rickets OMIM:193100
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Bilateral breast hypoplasia, Hypo... ORPHA:52901
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated calcitonin, Decreased growth hormone responses to growth hormone-releasing hormone chall... OMIM:101800
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Hypocalcemia, Increased bone mineral density, Hyperphosphatemia, Transient hy... OMIM:127000
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hyperphosphatemia OMIM:614207
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Abnormal circulating follicle-stimulating hormone con... ORPHA:93325
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hypophosphatemia, Osteoporosis OMIM:612287
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Elevated circulating parathyroid hormone level, Hyper... OMIM:612089
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Decreased response to growth hormone stimulation test, Reduced circulating prolacti... ORPHA:79444
Paget Disease Of Bone 5, Juvenile-Onset
Increased bone mineral density, Osteopenia, Hydroxyprolinemia, Osteoporosis, Hyperphosphatemia, H... OMIM:239000
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Pseudohypoparathyroidism Type 1A
Elevated calcitonin, Hypocalcemia, Decreased response to growth hormone stimulation test, Reduced... ORPHA:79443
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hypophosphatemia, Osteoporosis OMIM:612286
Fanconi Renotubular Syndrome 2
Osteopenia, Hypophosphatemia, Rickets OMIM:613388
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia ORPHA:99845
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Elevated circulating creatine kinase concentration, Decreased fertility OMIM:313200
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Hypophosphatemia, Hypocalcemia, Osteomalacia, Abnormal bone structure, Osteolysis, Hyp... ORPHA:93160
Mccune-Albright Syndrome
Abnormal endocrine physiology, Ovarian cyst, Increased circulating prolactin concentration, Prima... ORPHA:562
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Decreased circulating parathyroid hormone level, Hypophosphatemic rickets, Hypophosphatemia, Incr... ORPHA:157215
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Osteomalacia, Rickets, Hypocalcemia ORPHA:89937
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Acrodysostosis With Multiple Hormone Resistance
Elevated calcitonin, Hypocalcemia, Decreased response to growth hormone stimulation test, Cryptor... ORPHA:280651
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Osteomalacia, Rickets, Hypokalemia OMIM:134600
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Reduced bone mineral density ORPHA:428
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... ORPHA:94093
Fibrous Dysplasia Of Bone
Precocious puberty in females, Elevated circulating growth hormone concentration, Fibrous dysplas... ORPHA:249
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Secondary hyperparathyroidism, Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosp... OMIM:264700
Hemochromatosis, Type 1
Amenorrhea, Increased circulating ferritin concentration, Testicular atrophy, Impotence, Hypogona... OMIM:235200
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Thin bony cortex, Rickets OMIM:600081
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Hypocalcemic Vitamin D-Dependent Rickets
Secondary hyperparathyroidism, Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosp... ORPHA:289157
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Hypophosphatem... OMIM:300554
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Reduced bone mineral density ORPHA:2611
Vitamin D-Dependent Rickets, Type 2A
Secondary hyperparathyroidism, Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosp... OMIM:277440
Cystinosis
Nephrogenic diabetes insipidus, Hypophosphatemia, Hypokalemia, Hypothyroidism, Type I diabetes me... ORPHA:213
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calcium concentration, Elevated ... OMIM:307800
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Hypophosphatem... OMIM:241530
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... OMIM:308750
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Primary hyperparathyroidism, Osteomalacia, Hypercalcemia, Hypermagnesemia OMIM:600740
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypoalbuminemia ORPHA:398063
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Decreased skull ossification OMIM:601163
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Osteomalacia, Hypokalemia OMIM:227810
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia, Rickets, Diabetes mellitus OMIM:616026
Dent Disease 1
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Osteomalacia, Thin bon... OMIM:300009
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Osteopenia, Hypophosphatemia, Hypercalcemia OMIM:156400
Hyperparathyroidism-Jaw Tumor Syndrome
Abnormality of the parathyroid morphology, Hypophosphatemia, Thyroid carcinoma, Parathyroid adeno... ORPHA:99880
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Increased circulating ferritin concentration, Decrea... ORPHA:465508
Hypophosphatemic Rickets
Precocious puberty, Fibrous dysplasia of the bones, Hypophosphatemia, Hyperthyroidism, Elevated c... ORPHA:437
Parathyroid Carcinoma
Abnormality of the parathyroid morphology, Hypophosphatemia, Thyroid carcinoma, Parathyroid carci... ORPHA:143
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia ORPHA:340
Fanconi-Bickel Syndrome
Hypophosphatemia, Osteopenia, Hypertriglyceridemia, Diabetes mellitus, Rickets ORPHA:2088
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Elevated circulating parathyroid hormone level, Primary hyperparathyroidism, Hy... OMIM:239200
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:466650
Oncogenic Osteomalacia
Hypophosphatemia, Fibrous dysplasia of the bones, Hypocalcemia ORPHA:352540
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... ORPHA:31824
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Elevated circulating creatine kinase ... OMIM:619743
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hy... ORPHA:405
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... ORPHA:289176
Infantile Nephropathic Cystinosis
Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration, Abnormality of thyroid physiolog... ORPHA:411629
Cystinosis, Nephropathic
Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Reduced blood urea nitro... OMIM:219800
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypothyroidism, Hypocalcemic tetany, Elevated circul... ORPHA:411634
Dent Disease
Delayed epiphyseal ossification, Sparse bone trabeculae, Renal hypophosphatemia, Elevated circula... ORPHA:1652
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Graves disease, Hyperthyroidism, Episodic hypokalemia, Transient hypophosphatemia... ORPHA:79102
Aarskog-Scott Syndrome
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... OMIM:305400
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Osteomalacia, Decreased plasma carnitine... ORPHA:3337
X-Linked Hypophosphatemia
Hypophosphatemia, Reduced bone mineral density, Craniosynostosis, Vertebral hyperostosis, General... ORPHA:89936
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Hereditary Fructose Intolerance
Hypophosphatemia, Hyperuricemia, Hypermagnesemia ORPHA:469
Raine Syndrome
Hypophosphatemia, Increased bone mineral density, Subperiosteal bone formation OMIM:259775
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus OMIM:222300
Pearson Syndrome
Hypoparathyroidism, Adrenal insufficiency, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Decreas... ORPHA:699
Oculocerebrorenal Syndrome Of Lowe
Abnormal calcium-phosphate regulating hormone level, Hypophosphatemia, Hypokalemia, Hypoammonemia... ORPHA:534
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre... OMIM:157640
Alport Syndrome 3, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Lesch-Nyhan Syndrome
Testicular atrophy, Hyperuricemia OMIM:300322
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Reduced bone mineral density, Osteopetrosis, Craniosynostosis ORPHA:667
Opsismodysplasia
Hypophosphatemia OMIM:258480
Fructose Intolerance, Hereditary
Bicarbonaturia, Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia OMIM:229600
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Osteoporosis, Cryptorchidism ORPHA:3063
Steinert Myotonic Dystrophy
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Impotence, Hyperinsulinemia, D... ORPHA:273

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 Ptpdc1

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 Ptpdc1.

No publications found that use IMPC mice or data for Ptpdc1.

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MGI Allele Allele Type Produced
Ptpdc1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ptpdc1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Ptpdc1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Ptpdc1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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