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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Atp6ap2
ATPase, H+ transporting, lysosomal accessory protein 2
MGI:1917745
71 phenotypes from 3 alleles in 7 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Atp6ap2em1Nira/Y
C57BL/6J-Atp6ap2em1Nira 		abnormal cardiovascular system physiology J:324587
normal behavior/neurological phenotype J:324587
normal cardiovascular system phenotype J:324587
normal cellular phenotype J:324587
decreased body weight J:324587
decreased circulating angiotensinogen level J:324587
decreased epididymal fat pad weight J:324587
decreased kidney weight J:324587
decreased liver weight J:324587
decreased susceptibility to hypertension J:324587
decreased susceptibility to induced morbidity/mortality J:324587
decreased systemic arterial systolic blood pressure J:324587
decreased urine output J:324587
normal growth/size/body region phenotype J:324587
normal homeostasis/metabolism phenotype J:324587
increased cardiac stroke volume J:324587
increased heart left ventricle weight J:324587
increased lean body mass J:324587
male infertility J:324587
Atp6ap2tm1.1Aich/Atp6ap2+
Tg(Six2-EGFP/cre)1Amc/0
involves: C57BL/6 * CD-1 		albuminuria J:228872
decreased kidney weight J:228872
glomerulosclerosis J:228872
increased circulating creatinine level J:228872
Atp6ap2tm1.1Aich/Atp6ap2tm1.1Aich
Tg(Hoxb7-cre)5526Cmb/0
involves: C57BL/6 		abnormal kidney collecting duct morphology J:223201
abnormal kidney cortex morphology J:223201
abnormal metanephric ureteric bud development J:223201
abnormal ureteric bud morphology J:223201
decreased kidney weight J:223201
decreased nephron number J:223201
decreased urine osmolality J:223201
dilated kidney collecting duct J:223201
impaired branching involved in ureteric bud morphogenesis J:223201
increased circulating creatinine level J:223201
increased urine pH J:223201
kidney cyst J:223201
polyuria J:223201
renal hypoplasia J:223201
small kidney J:223201
Atp6ap2tm1.1Aich/Atp6ap2tm1.1Aich
Tg(Mx1-cre)1Cgn/0
involves: C57BL/6 * C57BL/6J * CBA/J 		abnormal hepatocyte morphology J:274386
abnormal hepatocyte physiology J:274386
enlarged liver J:274386
impaired autophagy J:274386
Atp6ap2tm1.1Aich/Atp6ap2tm1.1Aich
Tg(Six2-EGFP/cre)1Amc/0
involves: C57BL/6 * CD-1 		abnormal comma shaped body morphology J:228872
abnormal kidney cortex morphology J:228872
abnormal kidney development J:228872
abnormal metanephric mesenchyme morphology J:228872
abnormal nephrogenic zone morphology J:228872
abnormal nephron morphogenesis J:228872
abnormal nephron morphology J:228872
abnormal renal glomerulus morphology J:228872
abnormal S-shaped body morphology J:228872
decreased kidney weight J:228872
decreased nephron number J:228872
impaired branching involved in ureteric bud morphogenesis J:228872
kidney cortex cyst J:228872
kidney medulla cyst J:228872
podocyte foot process effacement J:228872
postnatal lethality, complete penetrance J:228872
small kidney J:228872
Atp6ap2tm1.1Aich/Y
Tg(Crx-cre)1Tfur/0
involves: C57BL/6 		abnormal retina layer morphology J:204145
abnormal retina morphology J:204145
decreased a-wave amplitude J:204145
decreased b-wave amplitude J:204145
decreased total retina thickness J:204145
retina photoreceptor degeneration J:204145
Atp6ap2tm1.1Aich/Y
Tg(Mx1-cre)1Cgn/0
involves: C57BL/6 * C57BL/6J * CBA/J 		abnormal hepatocyte morphology J:274386
abnormal hepatocyte physiology J:274386
enlarged liver J:274386
impaired autophagy J:274386
Atp6ap2tm1.1Aich/Y
Tg(Myh6-cre)2182Mds/?
involves: C57BL/6 * FVB/N 		abnormal cardiovascular system physiology J:165020
abnormal heart morphology J:165020
abnormal heart weight J:165020
decreased cardiac muscle contractility J:165020
postnatal lethality, complete penetrance J:165020
Atp6ap2tm1.1Ics/Y
involves: C57BL/6 * C57BL/6N 		impaired autophagy J:232697
Atp6ap2tm1.1Ics/Y
Tg(NPHS2-cre)295Lbh/0
involves: C57BL/6 * C57BL/6N * SJL 		abnormal cell cytoskeleton morphology J:232697
abnormal podocyte morphology J:232697
abnormal renal tubule epithelium morphology J:232697
absent proximal convoluted tubule brush border J:232697
albuminuria J:232697
decreased circulating serum albumin level J:232697
dilated renal tubule J:232697
impaired autophagy J:232697
increased blood urea nitrogen level J:232697
increased circulating cholesterol level J:232697
increased circulating creatinine level J:232697
increased podocyte apoptosis J:232697
increased urine protein level J:232697
podocyte foot process effacement J:232697
postnatal lethality, complete penetrance J:232697
renal cast J:232697
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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04/09/2024
MGI 6.23 		The Jackson Laboratory