Atp6v1b1 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Atp6v1b1
ATPase, H+ transporting, lysosomal V1 subunit B1
MGI:103285

32 phenotypes from 3 alleles in 5 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Atp6v1b1^{tm1.1(KOMP)Vlcg}/Atp6v1b1^{tm1.1(KOMP)Vlcg} C57BL/6N-Atp6v1b1^{tm1.1(KOMP)Vlcg}/Ucd	increased circulating alanine transaminase level	J:211773
Atp6v1b1^tm1Choo/Atp6v1b1^tm1Choo involves: 129S1/Sv	abnormal olfactory system physiology	J:192002
	abnormal pH regulation	J:192002
	abnormal response to novel odor	J:192002
Atp6v1b1^tm1Choo/Atp6v1b1^tm1Choo involves: 129S1/Sv * C57BL/6	abnormal renal transport	J:101414
	abnormal urine calcium level	J:101414
	acidosis	J:101414
	decreased circulating bicarbonate level	J:101414
	decreased urine osmolality	J:101414
	normal hearing/vestibular/ear phenotype	J:84744
	increased urine pH	J:101414
	normal skeleton phenotype	J:101414
Atp6v1b1^vtx/Atp6v1b1^vtx B6.MRL-Atp6v1b1^vtx/Kjn	decreased urine calcium level	J:243701
	normal hearing/vestibular/ear phenotype	J:243701
	increased urine pH	J:243701
Atp6v1b1^vtx/Atp6v1b1^vtx MRL/MpJ-Atp6v1b1^vtx/Kjn	abnormal cochlea morphology	J:243701
	abnormal cochlear endolymph ionic homeostasis	J:243701
	abnormal membranous labyrinth morphology	J:243701
	abnormal organ of Corti morphology	J:243701
	abnormal Reissner membrane morphology	J:243701
	abnormal spiral ligament fibrocyte morphology	J:243701
	abnormal spiral limbus morphology	J:243701
	abnormal type I spiral ligament fibrocytes	J:243701
	abnormal type III spiral ligament fibrocytes	J:243701
	bidirectional circling	J:243701
	decreased cochlear outer hair cell number	J:243701
	decreased endocochlear potential	J:243701
	decreased otolith number	J:243701
	decreased urine calcium level	J:243701
	dilated endolymphatic duct	J:243701
	dilated scala media	J:243701
	head tilt	J:243701
	increased or absent threshold for auditory brainstem response	J:243701
	small scala tympani	J:243701
	thin spiral ligament	J:243701

Contributing Projects: 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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