Plekha1 Phenotype Annotations - Multigenic Genotypes

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Plekha1
pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1
MGI:2442213

25 phenotypes from multigenic genotypes

Allelic Composition Genetic Background	Annotated Term	Reference
Pdgfra^tm1Sor/Pdgfra⁺ Plekha1^{Gt(ROSA)82Sor}/Plekha1^{Gt(ROSA)82Sor} either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6)	abnormal ovary morphology	J:142042
	abnormal vascular smooth muscle morphology	J:142042
	absent corpus luteum	J:142042
	anovulation	J:142042
	decreased circulating estradiol level	J:142042
	decreased tertiary ovarian follicle number	J:142042
	decreased theca cell number	J:142042
	female infertility	J:142042
	male infertility	J:142042
	small ovary	J:142042
	uterus hypoplasia	J:142042
Pdgfra^tm2Sor/Pdgfra⁺ Plekha1^{Gt(ROSA)82Sor}/Plekha1^{Gt(ROSA)82Sor} involves: 129S4/SvJaeSor	abnormal frontal bone morphology	J:117491
	abnormal skeleton morphology	J:117491
	broad snout	J:117491
	cleft palate	J:117491
	complete cleft palate	J:117491
	midline facial cleft	J:117491
	short maxilla	J:117491
	short nasal bone	J:117491
	short premaxilla	J:117491
	short snout	J:117491
Pdgfrb^tm1Sor/Pdgfrb⁺ Plekha1^{Gt(ROSA)82Sor}/Plekha1^{Gt(ROSA)82Sor} either: (involves: 129S4/SvJaeSor * 129S7/SvEvBrd) or (involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6)	male infertility	J:142042
Plekha1^{Gt(ROSA)82Sor}/Plekha1^{Gt(ROSA)82Sor} Tiparp^{Gt(ROSA)79Sor}/Tiparp⁺ either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6)	normal reproductive system phenotype	J:142042
Plekha1^tm1.1Arte/Plekha1^tm1.1Arte Plekha2^tm1.1Arte/Plekha2^tm1.1Arte C57BL/6J-Plekha1^tm1.1Arte Plekha2^tm1.1Arte	increased cardiac muscle cell glucose uptake	J:169475
	increased insulin sensitivity	J:169475
	increased muscle cell glucose uptake	J:169475

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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