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Genes Phenotypes Help, News, Blog

Gene: Atp2c1 MGI:1889008

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ATPase, Ca++-sequestering
Synonyms:
PMR1,  SPCA,  ATP2C1A,  1700121J11Rik,  D930003G21Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

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 Atp2c1 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 Atp2c1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Benign Chronic Pemphigus
OMIM:169600
Familial Benign Chronic Pemphigus
ORPHA:2841

The table below shows human diseases predicted to be associated to Atp2c1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epidermodysplasia Verruciformis, Susceptibility To, 1
Basal cell carcinoma, Verrucae OMIM:226400
Cylindromatosis, Familial
Neoplasm of the skin OMIM:132700
Melanoma, Cutaneous Malignant, Susceptibility To, 2
Cutaneous melanoma OMIM:155601
Melanoma, Cutaneous Malignant, Susceptibility To, 8
Cutaneous melanoma OMIM:614456
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Verrucae, Squamous cell carcinoma OMIM:618267
Cheilitis Glandularis
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma ORPHA:1221
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma OMIM:613736
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Chondrosarcoma
Chondrosarcoma OMIM:215300
Tumor Predisposition Syndrome 4
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma ORPHA:50944
Xeroderma Pigmentosum Variant
Melanoma, Basal cell carcinoma, Squamous cell carcinoma ORPHA:90342
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma OMIM:224750
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Junctional Epidermolysis Bullosa Inversa
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79405
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, B-cell lymphoma, Myelodysplasia, Hematological neoplasm, T-cell lymphoma,... ORPHA:158057
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Pilomatrixoma
Pilomatrixoma OMIM:132600
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Verrucae OMIM:618309
Xeroderma Pigmentosum, Complementation Group F
Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of... OMIM:278760
Combined Immunodeficiency Due To Dock8 Deficiency
Squamous cell carcinoma of the vulva, Verrucae, Anal canal squamous carcinoma, Squamous cell carc... ORPHA:217390
Late-Onset Junctional Epidermolysis Bullosa
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79406
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... ORPHA:79140
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma ORPHA:357154
Self-Improving Dystrophic Epidermolysis Bullosa
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79411
Epidermodysplasia Verruciformis
Verrucae, Squamous cell carcinoma ORPHA:302
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Necrobiosis Lipoidica
Squamous cell carcinoma ORPHA:542592
Xeroderma Pigmentosum, Variant Type
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma OMIM:278750
Ichthyosis, Hystrix-Like, With Deafness
Squamous cell carcinoma OMIM:602540
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Squamous cell carcinoma OMIM:615225
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Actinic keratosis, Oropharyngeal squamous cell carcinoma, Breast carcinoma OMIM:614564
Recessive Dystrophic Epidermolysis Bullosa Inversa
Basal cell carcinoma, Esophageal stricture, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79409
Pilomatrixoma
Pilomatrixoma, Neoplasm of head and neck ORPHA:91414
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... ORPHA:276399
Huriez Syndrome
Squamous cell carcinoma of the skin OMIM:181600
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Pilomatrixom... ORPHA:247806
Werner Syndrome
Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Neoplasm o... ORPHA:902
Joubert Syndrome 15
Exencephaly OMIM:614464
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79410
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... OMIM:150800
Recurrent Respiratory Papillomatosis
Squamous cell carcinoma ORPHA:60032
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... OMIM:616415
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilic infiltration of the esophagus, Squamous cell carcinoma OMIM:243700
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma OMIM:618373
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Esophageal stricture, Abnormal esophagus morphology, Squamous... OMIM:226600
Isolated Hemihyperplasia
Cryptorchidism, Myelomeningocele ORPHA:2128
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Chromomycosis
Multiple cutaneous malignancies, Squamous cell carcinoma ORPHA:182
Gardner Syndrome
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... ORPHA:79665
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Fanconi Anemia, Complementation Group P
Squamous cell carcinoma OMIM:613951
Xeroderma Pigmentosum, Complementation Group E
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin OMIM:278740
Xeroderma Pigmentosum, Complementation Group C
Actinic keratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma OMIM:278720
Papillon-Lefèvre Syndrome
Melanoma, Neoplasm of the skin, Squamous cell carcinoma ORPHA:678
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... OMIM:175100
Trichothiodystrophy 1, Photosensitive
Basal cell carcinoma, Malabsorption, Intestinal obstruction, Squamous cell carcinoma OMIM:601675
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Furrowed tongue, Oral leukoplakia, Squamous cell carcinoma OMIM:148210
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Caudal Duplication
Cryptorchidism, Myelomeningocele, Spina bifida ORPHA:1756
Rothmund-Thomson Syndrome Type 2
Myelodysplasia, Lymphoma, Cleft palate, Squamous cell carcinoma, Basal cell carcinoma, Melanoma, ... ORPHA:221016
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Esophageal stricture, Squamous cell carcinoma, Ankyloglossia, ... ORPHA:89842
Rothmund-Thomson Syndrome Type 1
Myelodysplasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplasm of the skin, Le... ORPHA:221008
Rothmund-Thomson Syndrome
Myelodysplasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplasm of the skin, Le... ORPHA:2909
Oculocutaneous Albinism Type 1B
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:79434
Meckel Syndrome, Type 2
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly OMIM:603194
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation OMIM:611134
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro... ORPHA:1908
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma OMIM:606764
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Squamous cell carcinoma of the skin, Myelodysplasia OMIM:620365
Turcot Syndrome With Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... ORPHA:99818
Kid Syndrome
Trichilemmoma, Neoplasm of the tongue, Neoplasm of the skin, Squamous cell carcinoma ORPHA:477
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon... OMIM:620189
Bloom Syndrome
Leukemia, Lymphoma, Squamous cell carcinoma OMIM:210900
Rothmund-Thomson Syndrome, Type 2
Squamous cell carcinoma, Anteriorly placed anus, Basal cell carcinoma, High palate, Osteosarcoma OMIM:268400
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Esophageal strictu... OMIM:305000
Wildervanck Syndrome
Meningocele ORPHA:3456
Hereditary Acrokeratotic Poikiloderma
Xerostomia, Squamous cell carcinoma, Ankyloglossia, Oral leukoplakia, Transitional cell carcinoma... ORPHA:2907
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... OMIM:610755
Xeroderma Pigmentosum, Complementation Group B
Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cutaneous melanoma OMIM:610651
Humero-Radial Synostosis
Meningocele ORPHA:3265
Trichothiodystrophy
High, narrow palate, Squamous cell carcinoma ORPHA:33364
Oculocutaneous Albinism Type 1A
Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:79431
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Kindler Epidermolysis Bullosa
Esophageal stricture, Neoplasm of the urethra, Squamous cell carcinoma, Inflammation of the large... ORPHA:2908
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Short stature, Spina bifida ORPHA:1327
Triploidy
Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, Intrauterine growth retardation ORPHA:3376
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... OMIM:115310
Dyskeratosis Congenita, Digenic
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Oral leukoplakia OMIM:620040
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Autosomal Recessive Spondylocostal Dysostosis
Short stature, Cryptorchidism, Meningocele, Umbilical hernia, Spina bifida occulta, Intrauterine ... ORPHA:2311
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly ORPHA:2211
Xeroderma Pigmentosum, Complementation Group A
Melanoma, Squamous cell carcinoma of the skin OMIM:278700
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Oropharyngeal squamous cell carcinoma, Esophageal carcinoma, Enterocolitis, Abno... ORPHA:391487
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:220295
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Anal fissure, Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma, Esophageal ulcer... ORPHA:79408
Oculocutaneous Albinism Type 2
Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma ORPHA:79432
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Cerebrocostomandibular Syndrome
Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth ... ORPHA:1393
Congenital Erythropoietic Porphyria
Neoplasm of the skin, Squamous cell carcinoma ORPHA:79277
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Spina bifida ORPHA:1120
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Severe Generalized Junctional Epidermolysis Bullosa
Esophageal stricture, Squamous cell carcinoma ORPHA:79404
Oncogenic Osteomalacia
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... ORPHA:352540
Fountain Syndrome
Spina bifida occulta, Short stature, Spina bifida ORPHA:3219
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Growth delay OMIM:614424
Cowden Syndrome 1
Colonic diverticula, Fibroadenoma of the breast, Breast carcinoma, Furrowed tongue, Hamartomatous... OMIM:158350
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-... ORPHA:2839
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Short stature ORPHA:2031
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Acromelic Frontonasal Dysplasia
Encephalocele, Cryptorchidism, Meningocele ORPHA:1827
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Lateral Meningocele Syndrome
Short stature, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Meningocele, Umbilical he... OMIM:130720
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... ORPHA:63259
Lmna-Related Cardiocutaneous Progeria Syndrome
Papillary renal cell carcinoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Pulmon... ORPHA:363618
Dyskeratosis Congenita, Autosomal Dominant 1
Squamous cell carcinoma of the skin, Oral leukoplakia, Myelodysplasia OMIM:127550
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Lumbar Syndrome
Cryptorchidism, Myelomeningocele, Spina bifida ORPHA:83628
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Intrauterine growth retardation ORPHA:3412
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, Cryptorchidism ORPHA:2789
Mosaic Trisomy 9
Intrauterine growth retardation, Patent ductus arteriosus, Spina bifida, Cryptorchidism ORPHA:99776
Hermansky-Pudlak Syndrome
Basal cell carcinoma, Squamous cell carcinoma of the skin, Malabsorption ORPHA:79430
Trisomy 18
Short stature, Spina bifida, Cryptorchidism, Anencephaly, Growth delay, Holoprosencephaly, Intrau... ORPHA:3380
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
Phakomatosis Pigmentokeratotica
Cryptorchidism, Spina bifida ORPHA:2874
Trisomy 20P
Macroorchidism, Umbilical hernia, Spina bifida, Cryptorchidism ORPHA:261318
Pagod Syndrome
Encephalocele, Short stature, Spina bifida, Meningocele, Abnormal testis morphology ORPHA:991
Phocomelia, Schinzel Type
Intrauterine growth retardation, Disproportionate short stature, Meningocele, Cryptorchidism ORPHA:2879
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Squamous cell carcinoma of the skin, Smooth tongue ORPHA:79396
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Short stature, Rhizomelic leg shortening, Meningocele, Rhizomelic arm sh... ORPHA:397715
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Nail-Patella Syndrome
Short stature, Spina bifida OMIM:161200
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... ORPHA:2369
Neu-Laxova Syndrome 1
Spina bifida, Cryptorchidism, Patent ductus arteriosus, Stillbirth, Short umbilical cord, Small p... OMIM:256520
Hallermann-Streiff Syndrome
Cryptorchidism, Proportionate short stature, Spina bifida OMIM:234100
Focal Dermal Hypoplasia
Umbilical hernia, Patent ductus arteriosus, Spina bifida ORPHA:2092
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Hydrocephalus, Anencephaly OMIM:616546
Fanconi Anemia
Short stature, Spina bifida, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Growth dela... ORPHA:84
Fibular Hemimelia
Spina bifida ORPHA:93323
Jacobsen Syndrome
Short stature, Spina bifida, Cryptorchidism, Growth delay, Intrauterine growth retardation ORPHA:2308
22Q11.2 Deletion Syndrome
Short stature, Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Patent ductus arteriosus... ORPHA:567
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida OMIM:162200
Vater/Vacterl Association
Occipital encephalocele, Spina bifida, Postnatal growth retardation, Patent ductus arteriosus, Pa... OMIM:192350
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Orofaciodigital Syndrome Vi
Occipital meningocele, Short stature OMIM:277170
Thrombocytopenia-Absent Radius Syndrome
Patent ductus arteriosus, Short stature, Spina bifida OMIM:274000
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Spina bifida OMIM:619480
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Aicardi Syndrome
Postnatal growth retardation, Spina bifida OMIM:304050
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short stature, Spina bifida ORPHA:508498
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Koolen-De Vries Syndrome Due To A Point Mutation
Testicular neoplasm, Spina bifida, Postnatal growth retardation, Cryptorchidism, Hydrocephalus ORPHA:363965
17Q21.31 Microdeletion Syndrome
Testicular neoplasm, Spina bifida, Postnatal growth retardation, Cryptorchidism, Hydrocephalus ORPHA:363958
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta OMIM:267750
Rubinstein-Taybi Syndrome 1
Short stature, Spina bifida, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arteriosus, ... OMIM:180849
Campomelic Dysplasia
Spina bifida, Hydrocephalus, Spinal dysraphism, Disproportionate short-limb short stature, Neonat... OMIM:114290
Arima Syndrome
Growth delay, Occipital meningocele OMIM:243910
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Intestinal malrotation, Pilomatrixoma, Spinal cord tumor, Narrow palate, Neoplasm, Meningioma ORPHA:353281
Otopalatodigital Syndrome, Type Ii
Short stature, Spina bifida, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Stillbi... OMIM:304120
Tetrasomy 9P
Pilomatrixoma, Cleft palate, High palate, Bifid uvula, Median cleft lip and palate ORPHA:3310
Marfan Syndrome
Meningocele ORPHA:558
Exstrophy-Epispadias Complex
Cryptorchidism, Hydrocephalus, Spina bifida ORPHA:322
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Intestinal malrotation, Pilomatrixoma, Narrow palate, High palate, Meningioma ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Intestinal malrotation, Pilomatrixoma, Narrow palate, High palate, Meningioma ORPHA:353277
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, Disproportionate short stature, Cryptorchidism OMIM:276820
Familial Benign Chronic Pemphigus
ORPHA:2841
Benign Chronic Pemphigus
OMIM:169600

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 Atp2c1

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 Atp2c1.

No publications found that use IMPC mice or data for Atp2c1.

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MGI Allele Allele Type Produced
Atp2c1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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