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Gene: Atp13a1 MGI:2180801

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Gene Summary

Name:
ATPase type 13A1
Synonyms:
Atp13a,  Cgi152,  catp

Order Alleles

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
preweaning lethality, complete penetrance Atp13a1em1(IMPC)Tcp HOM   Early adult 0.00
abnormal embryo size Atp13a1em1(IMPC)Tcp HOM E15.5 0.00
abnormal head shape Atp13a1em1(IMPC)Tcp HOM E15.5 0.00
anophthalmia Atp13a1em1(IMPC)Tcp HOM E15.5 0.00
abnormal head size Atp13a1em1(IMPC)Tcp HET E15.5 0.00
pallor Atp13a1em1(IMPC)Tcp HOM E15.5 0.00
exencephaly Atp13a1em1(IMPC)Tcp HOM E15.5 0.00
abnormal head size Atp13a1em1(IMPC)Tcp HOM E15.5 0.00
edema Atp13a1em1(IMPC)Tcp HOM E15.5 0.00
anophthalmia Atp13a1em1(IMPC)Tcp HET E15.5 0.00
abnormal craniofacial morphology Atp13a1em1(IMPC)Tcp HET E15.5 0.00
abnormal embryo size Atp13a1em1(IMPC)Tcp HET E15.5 0.00
abnormal craniofacial morphology Atp13a1em1(IMPC)Tcp HOM E15.5 0.00
abnormal head shape Atp13a1em1(IMPC)Tcp HET E15.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

101 Images

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Gross Morphology Embryo E14.5-E15.5

Images

90 Images

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Eye Morphology

Images Slit Lamp

96 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Download thumbnail Download
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Atp13a1 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 Atp13a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos OMIM:611638
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Pericardial effusion, Microph... OMIM:613885
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrocephalus, Hydrops fetalis, Pallor, Oligohydramnios ORPHA:163596
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly, Microcephaly ORPHA:2898
Peripheral Cone Dystrophy
Pallor OMIM:609021
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Sporadic Fetal Brain Disruption Sequence
Prominent occiput, Plagiocephaly, Microcephaly ORPHA:1665
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Brachycephaly, Microcephaly ORPHA:2528
Hydrolethalus
Anophthalmia, Polyhydramnios, Hydrocephalus, Anencephaly, Microphthalmia ORPHA:2189
Congenital Heart Block
Pericardial effusion, Hydrops fetalis, Peripheral edema, Pallor, Intrauterine growth retardation,... ORPHA:60041
Optic Atrophy 1
Pallor OMIM:165500
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Trisomy 13
Anophthalmia, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Microphthalmia, Calvarial skull de... ORPHA:3378
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Breath-Holding Spells
Pallor OMIM:607578
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida ORPHA:1104
Trisomy 1Q
Frontal bossing, Anophthalmia, Polyhydramnios, Increased nuchal translucency, Hydrocephalus, Hydr... ORPHA:261344
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Cerebrooculonasal Syndrome
Anophthalmia, Brachycephaly ORPHA:66625
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Craniosynostosis 6
Turricephaly, Craniosynostosis, Microcephaly, Parietal foramina, Brachycephaly, Plagiocephaly, Ri... OMIM:616602
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Holoprosencephaly, Microcephaly OMIM:147250
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Joubert Syndrome 15
Exencephaly OMIM:614464
Hemoglobin D Disease
Pallor ORPHA:90039
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Optic nerve hypoplasia, Microcephaly, Brachycephaly, Lambdoidal craniosynostosis, S... OMIM:618736
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Brachycephaly, Craniosynostosis OMIM:614416
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Cyclic Vomiting Syndrome
Pallor, Microcephaly OMIM:500007
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Hydrocephalus, Anophthalmia, Holoprosencephaly ORPHA:77298
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Microcephaly ORPHA:139471
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Pallor OMIM:613561
Cerebrooculonasal Syndrome
Encephalocele, Frontal bossing, Anophthalmia, Optic nerve hypoplasia, Craniosynostosis, Proboscis... OMIM:605627
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Polyhydramnios, Aqueductal stenosis, Hydrocephalus, Microphthalmia, I... ORPHA:3412
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion OMIM:612247
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Frontal bossing, Brachycephaly, Intrauterine growth retardation, Microphthalmia, C... ORPHA:228390
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Microphthalmia With Limb Anomalies
Microphthalmia, Frontal bossing, Anophthalmia OMIM:206920
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Intrauterine growth retardation ORPHA:2470
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microcephaly, Pallor, Microphthalmia, Intrauterine growth retardation OMIM:609053
Walker-Warburg Syndrome
Microphthalmia, Hydrocephalus, Anophthalmia, Microcephaly ORPHA:899
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Edema, Microcephaly, Lymphedema, Skin ulcer, Scaling skin, Chylothorax, Microphthal... ORPHA:2526
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Plagiocephaly, Dolichocephaly, Aniridia, Umbilical hernia ORPHA:1101
Cockayne Syndrome Type 2
Intrauterine growth retardation, Anophthalmia ORPHA:90322
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
American Trypanosomiasis
Periorbital edema, Pallor, Edema ORPHA:3386
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Retinitis Pigmentosa 51
Pallor OMIM:613464
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Nonimmune hydrops fetalis, Pallor OMIM:266200
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Lymphedema ORPHA:3226
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Meckel Syndrome
Encephalocele, Anophthalmia, Microcephaly, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, A... ORPHA:564
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Holoprosencephaly
Encephalocele, Frontal bossing, Anophthalmia, Flat occiput, Microcephaly, Hydrocephalus, Spinal d... ORPHA:2162
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Secondary microcephaly, Pallor OMIM:613839
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Fibular Hemimelia
Anophthalmia, Spina bifida, Craniosynostosis ORPHA:93323
Microphthalmia, Syndromic 3
Frontal bossing, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Microcephaly, Microph... OMIM:206900
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Myelofibrosis
Pallor, Purpura OMIM:254450
Irida Syndrome
Pallor ORPHA:209981
Dravet Syndrome
Pallor ORPHA:33069
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Holoprosencephaly, Microphthal... OMIM:610829
Primary Myelofibrosis
Ecchymosis, Pallor, Petechiae, Purpura ORPHA:824
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Microcephaly OMIM:246450
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor, Microcephaly OMIM:600462
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Flat occiput, Exencephaly, Brachycephaly ORPHA:2211
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Achondrogenesis, Type Ii
Frontal bossing, Polyhydramnios, Edema, Abnormally large globe, Brachycephaly, Hydrops fetalis OMIM:200610
Craniosynostosis 2
Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Trigonocep... OMIM:604757
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Fumarase Deficiency
Frontal bossing, Polyhydramnios, Microcephaly, Pallor, Ascites OMIM:606812
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Aplasia/Hypoplasia of the optic nerve, Cranial asymmetry, Optic nerve hypoplasia ORPHA:137634
Cold Agglutinin Disease
Pallor ORPHA:56425
Microphthalmia, Syndromic 9
Intrauterine growth retardation, Anophthalmia, Bilateral microphthalmos OMIM:601186
Waldenström Macroglobulinemia
Periorbital edema, Pedal edema, Pallor, Pleural effusion, Purpura ORPHA:33226
Beta-Ketothiolase Deficiency
Pallor, Edema, Dehydration ORPHA:134
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Retinitis Pigmentosa 75
Pallor OMIM:617023
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Brachycephaly ORPHA:264200
Microgastria-Limb Reduction Defect Syndrome
Plagiocephaly, Frontal bossing, Anophthalmia, Microphthalmia ORPHA:2538
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia OMIM:615636
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
Fraser Syndrome 1
Encephalocele, Anophthalmia, Microcephaly, Myelomeningocele, Bilateral microphthalmos, Hydrocepha... OMIM:219000
Cockayne Syndrome Type 1
Anophthalmia ORPHA:90321
Sepsis In Premature Infants
Edema, Pallor, Petechiae, Purpura ORPHA:90051
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
3-Hydroxy-3-Methylglutaric Aciduria
Dehydration, Pallor, Edema, Microcephaly ORPHA:20
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Microcephaly, Hydrocephalus, Erythema, Microphthalmia, Midface retrusion ORPHA:2556
Achard Syndrome
Broad skull, Brachycephaly OMIM:100700
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Edema ORPHA:329971
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Elliptocytosis 1
Pallor OMIM:611804
Tay-Sachs Disease
Pallor OMIM:272800
Histiocytoid Cardiomyopathy
Hydrocephalus, Pallor, Microphthalmia, Congenital aphakia, Pulmonary edema ORPHA:137675
Fraser Syndrome
Encephalocele, Anophthalmia, Microcephaly, Myelomeningocele, Umbilical hernia, Microphthalmia, Ca... ORPHA:2052
Refractory Anemia With Excess Blasts
Anemic pallor, Pedal edema ORPHA:86839
Incontinentia Pigmenti
Hypoplasia of the fovea, Microcephaly, Erythema, Pallor, Microphthalmia OMIM:308300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Microcephaly, Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Pallor, Microphthalmia, Midfa... OMIM:253280
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Dominant Beta-Thalassemia
Frontal bossing, Pallor, Skin ulcer ORPHA:231226
Charge Syndrome
Anophthalmia, Polyhydramnios, Microcephaly, Aqueductal stenosis, Holoprosencephaly, Microphthalmi... ORPHA:138
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Senior-Loken Syndrome 8
Pallor OMIM:616307
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Proboscis, Holoprosencephaly, Microphthalmia ORPHA:141099
Microphthalmia, Syndromic 6
Anophthalmia, Microcephaly, Brachycephaly, Plagiocephaly, Lambdoidal craniosynostosis, Microphtha... OMIM:607932
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Letterer-Siwe Disease
Pallor OMIM:246400
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Holoprosencephaly 7
Frontal bossing, Flat occiput, Occipital meningocele, Microcephaly, Alobar holoprosencephaly, Hyd... OMIM:610828
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Focal Dermal Hypoplasia
Anophthalmia, Microcephaly, Myelomeningocele, Hydrocephalus, Umbilical hernia, Aniridia, Micropht... OMIM:305600
Beta-Thalassemia Major
Frontal bossing, Pallor, Skin ulcer ORPHA:231214
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Pallor ORPHA:29072
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor, Hydrops fetalis, Dehydration OMIM:557000
Fanconi Anemia, Complementation Group C
Microphthalmia, Intrauterine growth retardation, Anemic pallor, Microcephaly OMIM:227645
Fanconi Anemia, Complementation Group E
Microphthalmia, Anemic pallor, Microcephaly OMIM:600901
Diamond-Blackfan Anemia 1
Microcephaly, Parietal foramina, Pallor, Intrauterine growth retardation, Spina bifida occulta OMIM:105650
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Fanconi Anemia, Complementation Group A
Microphthalmia, Anemic pallor, Microcephaly OMIM:227650
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Microphthalmia With Limb Anomalies
Microphthalmia, Frontal bossing, Hydrocephalus, True anophthalmia ORPHA:1106
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Scaphocephaly, Cranial asymmetry, Microcephaly OMIM:614886
Alternating Hemiplegia Of Childhood
Pallor, Dehydration ORPHA:2131
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Adenohypophysitis
Pallor ORPHA:95512
Aregenerative Anemia
Pallor ORPHA:101096
Degcags Syndrome
Craniosynostosis, Microcephaly, Polyhydramnios, Plagiocephaly, Pallor, Microphthalmia, Intrauteri... OMIM:619488
Panhypophysitis
Pallor ORPHA:95513
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Microphthalmia, Syndromic 2
Microphthalmia, Anophthalmia, Umbilical hernia, Microcephaly OMIM:300166
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Infection-Related Hemolytic Uremic Syndrome
Pleural empyema, Pallor, Edema, Generalized edema ORPHA:544482
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Prolactinoma
Pallor ORPHA:2965
Fanconi Anemia, Complementation Group D2
Microphthalmia, Hydrocephalus, Anemic pallor, Microcephaly OMIM:227646
Charge Syndrome
Anophthalmia, Polyhydramnios, Microcephaly, Unilateral microphthalmos, Umbilical hernia, Holopros... OMIM:214800
Idiopathic Hypereosinophilic Syndrome
Pleural effusion, Angioedema, Joint swelling, Pallor ORPHA:3260
Branchiooculofacial Syndrome
Anophthalmia, Microcephaly, Branchial anomaly, Dolichocephaly, Microphthalmia, Intrauterine growt... OMIM:113620
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia OMIM:600145
Esophageal Atresia
Pallor, Polyhydramnios ORPHA:1199
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus, Pallor, Craniosynostosis ORPHA:667
Diamond-Blackfan Anemia
Nonimmune hydrops fetalis, Pallor, Microcephaly ORPHA:124
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Pallor ORPHA:91347
Von Hippel-Lindau Disease
Pallor, Macular edema ORPHA:892
Arthrogryposis, Distal, Type 4
Cranial asymmetry OMIM:609128
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Hydrocephalus, Branchial anomaly, Microphthalmia OMIM:164210
Schimmelpenning-Feuerstein-Mims Syndrome
Cranial asymmetry OMIM:163200
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia, Microcephaly OMIM:309800
Wiedemann-Rautenstrauch Syndrome
Frontal bossing, Optic disc hypoplasia, Hydrocephalus, Cranial asymmetry, Severe intrauterine gro... ORPHA:3455
Goodpasture Syndrome
Pallor OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125

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 Atp13a1

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 Atp13a1.

No publications found that use IMPC mice or data for Atp13a1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Atp13a1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Atp13a1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Atp13a1em1(IMPC)Tcp Exon Deletion Mice

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