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Gene: Krtap7-1 MGI:1918613

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Gene Summary

Name:
keratin associated protein 7-1
Synonyms:
5430433J05Rik

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
small spleen Krtap7-1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal digit morphology Krtap7-1em1(IMPC)Ccpcz HOM Early adult 2.70×10-05
abnormal heart morphology Krtap7-1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Krtap7-1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Krtap7-1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal cornea morphology Krtap7-1em1(IMPC)Ccpcz HOM Early adult 5.97×10-05
abnormal thymus morphology Krtap7-1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Krtap7-1em1(IMPC)Ccpcz HOM Early adult 0.00

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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.

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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Human diseases caused by Krtap7-1 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 Krtap7-1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Ethanolaminosis
Cardiomegaly OMIM:227150
Carpenter Syndrome
Polydactyly, Genu valgum, Talipes equinovarus, Finger syndactyly, Postaxial hand polydactyly, Bro... ORPHA:65759
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... OMIM:619313
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri... OMIM:620135
Lissencephaly Syndrome, Norman-Roberts Type
Rocker bottom foot, Patent foramen ovale, Hypoplastic spleen, Adducted thumb, Atrial septal defect ORPHA:89844
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten... OMIM:620642
Neuraminidase Deficiency
Hepatomegaly, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopath... OMIM:256550
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Metaphyseal irregularity, Cardiomegaly OMIM:269920
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Cardiomegaly ORPHA:858
Histiocytosis-Lymphadenopathy Plus Syndrome
Corneal arcus, Rocker bottom foot, Flexion contracture of toe, Joint contracture of the 5th finge... OMIM:602782
Gracile Bone Dysplasia
Aniridia, Slender long bone, Flared metaphysis, Asplenia, Hypoplastic spleen, Brachydactyly OMIM:602361
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Limited elbow movement, Ventricular hypertrophy, Cardiomyopathy, Disloca... OMIM:300280
Mulibrey Nanism
Hepatomegaly, Astigmatism, Single transverse palmar crease, Corneal dystrophy, Pericardial constr... OMIM:253250
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Palmoplantar keratoderma, Syndactyly OMIM:613576
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy ORPHA:79292
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Abnormality of the palmar creases, Patent foramen ovale, Bilateral cryptorchidism... OMIM:618652
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Pterygium, Hypertrophic c... OMIM:618052
Proteus-Like Syndrome
Heterochromia iridis, Cataract, Splenomegaly, Thymus hyperplasia, Limbal dermoid, Polycystic ovar... ORPHA:2969
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Cantu Syndrome
Bicuspid aortic valve, Short hallux, Pericardial effusion, Metaphyseal widening, Erlenmeyer flask... OMIM:239850
Familial Atrial Myxoma
Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Pulmonic valve myxoma, Cardiomegaly ORPHA:615
Lethal Congenital Contracture Syndrome 10
Adducted thumb, Femoral bowing, Short long bone, Hypoplasia of the thymus, Cardiomegaly, Overridi... OMIM:617022
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Splenomegaly, Cardiomegaly, Te... OMIM:235200
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:600649
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Pseudo-Torch Syndrome 3
Anemia, Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia OMIM:618886
Attrv122I Amyloidosis
Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv... ORPHA:85451
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Short long bone, Pulmonic stenosis, Cardiomegaly, Right atrial ... OMIM:306955
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide distal femoral metaphysis, Squared iliac bones, Metaphyseal cupping, Delayed epiphyseal ossi... OMIM:613320
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Mirage Syndrome
Rocker bottom foot, Anemia, Radial club hand, Decreased testicular size, Hypoplastic spleen, Thro... OMIM:617053
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level in liver, Cardiomyopath... OMIM:212140
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,... OMIM:613270
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Developmental glaucoma, Sandal gap, Enlarged metaphyses, Dislocated radial head, Mitral valve pro... OMIM:245600
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Cataract, Short fourth metatarsal OMIM:266500
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Brittle Cornea Syndrome 1
Keratoglobus, Keratoconus, Decreased corneal thickness, Congenital hip dislocation, Mitral valve ... OMIM:229200
Long-Olsen-Distelmaier Syndrome
Microspherophakia, Cataract, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy,... OMIM:620609
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mit... ORPHA:324410
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Portal hypertension, Splenomeg... ORPHA:465508
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Cataract ORPHA:3137
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fibular diameter, Limb undergrowth, Fra... OMIM:616897
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Short long bone, Flat acetabular roof, Flared iliac wing, Splenomegaly, Bullet-s... OMIM:252500
Timothy Syndrome
Patent foramen ovale, Cutaneous syndactyly, Tetralogy of Fallot, Cardiomegaly, Ventricular septal... OMIM:601005
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic left atrium, Truncus arteriosus, Ventricular septal defect, Pu... OMIM:601186
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Clubbing, Right atrial enlargement, Car... ORPHA:439
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp... OMIM:115197
Lethal Acantholytic Erosive Disorder
Clinodactyly of the 5th finger, 4-5 finger syndactyly, Cardiomyopathy, Camptodactyly of toe, 2-3 ... ORPHA:158687
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Astigmatism, Cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly OMIM:617713
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Arachnodactyly, Talipes equinovarus OMIM:619036
Cantú Syndrome
Abnormal metaphysis morphology, Short hallux, Finger syndactyly, Abnormal heart valve morphology,... ORPHA:1517
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Tapered toe, Long toe, Elbow fle... OMIM:608836
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy OMIM:614702
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Increased arm span, Thin metacarpal cortices, Slender long bone, Thin metatarsal cortices, Arachn... ORPHA:2463
Fucosidosis
Cardiomegaly, Abnormality of the gallbladder, Corneal opacity, Hepatomegaly ORPHA:349
Frontometaphyseal Dysplasia
Limited elbow movement, Dislocated radial head, Wrist flexion contracture, Short metacarpal, Broa... ORPHA:1826
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Mogs-Cdg
Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, A... ORPHA:79330
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Anemia, Hypoparathyroidism, ... ORPHA:699
Cirrhotic Cardiomyopathy
Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Conjunctival icterus, Right atrial en... ORPHA:57777
Developmental And Epileptic Encephalopathy 95
Short 4th metacarpal, Hepatomegaly, Clinodactyly of the 5th finger, Single transverse palmar crea... OMIM:618143
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Hypertrophic cardiomyopathy, Hepatocellular necrosis, Cardiome... OMIM:201475
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly, Hepatic steatosis ORPHA:42
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Vernal Keratoconjunctivitis
Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat... ORPHA:70476
Yunis-Varon Syndrome
Rocker bottom foot, Abnormal finger morphology, Cardiomyopathy, Aplasia of the 1st metacarpal, Sl... ORPHA:3472
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy... OMIM:618278
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Mucopolysaccharidosis Type 3
Hepatomegaly, Abnormal aortic valve morphology, Genu valgum, Recurrent tonsillitis, Corneal opaci... ORPHA:581
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla... ORPHA:3384
Craniofaciofrontodigital Syndrome
Cardiomegaly, Palmoplantar cutis laxa, Abnormal heart valve morphology, Aortic valve stenosis, Pe... ORPHA:363705
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Abnormal cornea morphology, Asplenia OMIM:244400
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Flexion contracture of toe, Lymphadenopathy, Clubbing of fingers, Parotitis, Elbow ... OMIM:256040
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Cardiomegaly OMIM:608013
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect, Hip dysplasia OMIM:618798
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Fucosidosis
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Cardiomegaly, Coxa valga, Tortuosity of conju... OMIM:230000
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Double Outlet Left Ventricle
Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe... ORPHA:3427
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Hepatic steatosis OMIM:255120
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Intrahepatic cholestasis, Increased hepatic glycogen content, Hepatitis, Chronic he... OMIM:614921
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Cholesta... OMIM:620376
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Limited elbow movement, Proximal muscle weakness in upper limbs, Distal upper limb muscle weaknes... ORPHA:268
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Anemia, Talipes equinovarus, Corneal ulceration, Reticulocytosis, Cardio... ORPHA:14
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Hammertoe, Talipes equinovarus, Splenic cyst, Patent foramen ovale, Hepatic sinusoi... OMIM:620371
Glycogen Storage Disease Ii
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:232300
Naxos Disease
Right ventricular cardiomyopathy, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, ... OMIM:601214
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Short femur, Short tibia, Talipes equinovarus OMIM:620306
Histiocytoid Cardiomyopathy
Hepatomegaly, Corneal opacity, Congenital aphakia, Megalocornea, Cardiomegaly, Polycystic ovaries... ORPHA:137675
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Cataract, Pericardial effusion, Car... OMIM:261740
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Proteus Syndrome
Macrodactyly, Enlarged kidney, Abnormal finger morphology, Upper limb asymmetry, Lymphangioma, Sp... ORPHA:744
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Sandal gap, Cardiomegaly, Bicuspid aortic valve, Perime... OMIM:300855
Bohring-Opitz Syndrome
Annular pancreas, Fixed elbow flexion, Cholelithiasis, Metacarpophalangeal joint contracture, Bil... ORPHA:97297
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly, Hepatic calcification... ORPHA:228308
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Patent foramen ovale, Ventricular septal defect, Synostosis of the proximal phalan... OMIM:300967
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:308552
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla... ORPHA:1677
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Opacification of the corneal stroma ORPHA:79280
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Arachnodactyly, Abnormality iris morphology, Cardiomegaly ORPHA:91387
Liver Disease, Severe Congenital
Left atrial enlargement, Lymphocytosis, Biliary hyperplasia, Leukopenia, Splenomegaly, Cardiomega... OMIM:619991
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Genu valgum, Expanded metatarsals with widened medullary cav... OMIM:182250
Aicardi-Goutières Syndrome
Developmental glaucoma, Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Hypertr... ORPHA:51
Williams Syndrome
Corneal opacity, Pulmonic stenosis, Mitral valve prolapse, Cardiomegaly, Bicuspid aortic valve, A... ORPHA:904
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Hepatomegaly, Ventricular septal defect, Cryptorchidism ORPHA:96191
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Pancreatic hyperplasia, Hepatoblasto... OMIM:130650
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... ORPHA:75565
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Abnormal pancreas morphology, Cardiomegaly, Visceromegaly, Hypertr... ORPHA:116
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Glycogen Storage Disease Due To Acid Maltase Deficiency
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:365
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Ventricular hypertrophy, Abnormal calcification of the carpa... ORPHA:51608

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 Krtap7-1

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 Krtap7-1.

No publications found that use IMPC mice or data for Krtap7-1.

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MGI Allele Allele Type Produced
Krtap7-1em1(IMPC)Ccpcz Whole-gene deletion Mice

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