Efemp1 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Efemp1
epidermal growth factor-containing fibulin-like extracellular matrix protein 1
MGI:1339998

44 phenotypes from 5 alleles in 5 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Efemp1^{tm1.1(KOMP)Vlcg}/Efemp1^{tm1.1(KOMP)Vlcg} C57BL/6N-Efemp1^{tm1.1(KOMP)Vlcg}/Ucd	abnormal cecum morphology	J:211773
	preweaning lethality, incomplete penetrance	J:211773
Efemp1^tm1Eap/Efemp1⁺ involves: 129S6/SvEvTac * C57BL/6 * FVB/N	abnormal eye morphology	J:129901
Efemp1^tm1Eap/Efemp1^tm1Eap involves: 129S6/SvEvTac * C57BL/6 * FVB/N	abnormal eye morphology	J:129901
	abnormal retina pigment epithelium morphology	J:129901
Efemp1^tm1Lex/Efemp1^tm1Lex involves: 129S5/SvEvBrd * C57BL/6J	no abnormal phenotype detected	J:103485
Efemp1^tm1Lmar/Efemp1⁺ involves: 129X1/SvJ * BALB/c	abnormal Bruch membrane morphology	J:129902
	abnormal choriocapillaris morphology	J:129902
	abnormal retina pigment epithelium morphology	J:129902
	retina detachment	J:129902
	retina pigment epithelium atrophy	J:129902
Efemp1^tm1Lmar/Efemp1^tm1Lmar involves: 129X1/SvJ * BALB/c	abnormal Bruch membrane morphology	J:129902
	abnormal choriocapillaris morphology	J:129902
	abnormal retina pigment epithelium morphology	J:129902
	retina detachment	J:129902
	retina pigment epithelium atrophy	J:129902
Efemp1^tm2Lmar/Efemp1^tm2Lmar involves: 129X1/SvJ * BALB/c	abnormal body wall morphology	J:132043
	abnormal cutaneous elastic fiber morphology	J:132043
	herniated abdominal wall	J:132043
	herniated intestine	J:132043
	inguinal hernia	J:132043
	rectal prolapse	J:132043
Efemp1^tm2Lmar/Efemp1^tm2Lmar involves: 129X1/SvJ * C57BL/6	abnormal body wall morphology	J:132043
	abnormal coat appearance	J:132043
	abnormal cutaneous elastic fiber morphology	J:132043
	abnormal eye morphology	J:132043
	abnormal hair growth	J:132043
	abnormal reproductive system morphology	J:132043
	abnormal spleen morphology	J:132043
	abnormal testis morphology	J:132043
	abnormal uterus morphology	J:132043
	abnormal xiphoid process morphology	J:132043
	coarse hair	J:132043
	decreased body size	J:132043
	decreased bone mineral density	J:132043
	decreased kidney weight	J:132043
	decreased litter size	J:132043
	decreased liver weight	J:132043
	decreased skeletal muscle weight	J:132043
	decreased spleen weight	J:132043
	decreased subcutaneous adipose tissue amount	J:132043
	decreased total body fat amount	J:132043
	herniated abdominal wall	J:132043
	herniated intestine	J:132043
	normal homeostasis/metabolism phenotype	J:132043
	infertility	J:132043
	inguinal hernia	J:132043
	kidney atrophy	J:132043
	kyphosis	J:132043
	liver degeneration	J:132043
	loose skin	J:132043
	osteoporosis	J:132043
	premature aging	J:132043
	premature death	J:132043
	premature hair loss	J:132043
	rectal prolapse	J:132043
	reduced fertility	J:132043
	normal vision/eye phenotype	J:132043

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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