Bbs1 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Bbs1
Bardet-Biedl syndrome 1
MGI:1277215

55 phenotypes from 4 alleles in 6 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Bbs1^em1(IMPC)Mbp/Bbs1⁺ C57BL/6N-Bbs1^em1(IMPC)Mbp/MbpMmucd	abnormal blood vessel morphology	J:211773
	abnormal eye morphology	J:211773
	abnormal heart morphology	J:211773
	abnormal placenta morphology	J:211773
	anophthalmia	J:211773
	edema	J:211773
	microphthalmia	J:211773
	small heart	J:211773
Bbs1^em1(IMPC)Mbp/Bbs1^em1(IMPC)Mbp C57BL/6N-Bbs1^em1(IMPC)Mbp/MbpMmucd	abnormal placenta morphology	J:211773
	abnormal placenta vasculature	J:211773
	edema	J:211773
	preweaning lethality, complete penetrance	J:211773
Bbs1^Gt1Nk/Bbs1^Gt1Nk involves: 129S7/SvEvBrd	abnormal orientation of outer hair cell stereociliary bundles	J:102697
Bbs1^Gt1Nk/Bbs1^Gt1Nk involves: 129S7/SvEvBrd	abnormal outer hair cell stereociliary bundle morphology	J:102697
Bbs1^Gt1Nk/Bbs1^Gt1Nk involves: 129S7/SvEvBrd * C57BL/6J	abnormal olfactory epithelium cilium morphology	J:92950
	abnormal olfactory sensory neuron morphology	J:92950
	decreased birth body size	J:92950
	embryonic lethality during organogenesis, incomplete penetrance	J:92950
	obese	J:92950
	retina degeneration	J:92950
Bbs1^tm1Vcs/Bbs1^tm1Vcs B6.129-Bbs1^tm1Vcs	decreased dendritic spine density	J:279506
Bbs1^tm1Vcs/Bbs1^tm1Vcs involves: 129S1/Sv * 129X1/SvJ	abnormal cone electrophysiology	J:128532
	abnormal ependyma motile cilium morphology	J:128532
	abnormal eye electrophysiology	J:128532
	abnormal fat pad morphology	J:128532
	abnormal neuronal precursor proliferation	J:194096
	abnormal photoreceptor outer segment morphology	J:226512
	abnormal retina photoreceptor morphology	J:128532
	abnormal rod electrophysiology	J:128532
	absent sperm flagellum	J:128532
	decreased aggression towards mice	J:128532
	decreased locomotor activity	J:128532
	decreased striatum size	J:128532
	dilated brain ventricle	J:194096
	dilated lateral ventricle	J:194096
	disorganized photoreceptor inner segment	J:128532
	disorganized photoreceptor outer segment	J:226512
	enlarged lateral ventricles	J:128532
	enlarged third ventricle	J:128532
	hydrocephaly	J:194096
	impaired olfaction	J:128532
	increased brown adipose tissue amount	J:128532
	increased circulating leptin level	J:128532
	increased food intake	J:128532
	increased heart rate	J:128532
	increased neuron apoptosis	J:194096
	increased total body fat amount	J:128532
	normal limbs/digits/tail phenotype	J:128532
	male infertility	J:128532
	normal mortality/aging	J:128532
	normal nervous system phenotype	J:194096
	obese	J:128532
	photoreceptor inner segment degeneration	J:128532
	normal renal/urinary system phenotype	J:128532
	retina outer nuclear layer degeneration	J:128532
	small hippocampus	J:128532
	thin cerebral cortex	J:128532
Bbs1^tm2Vcs/Bbs1^tm2Vcs Tg(Pdgfra-cre)1Clc/0 involves: 129S6/SvEvTac * C57BL/6	decreased neuronal precursor proliferation	J:194096
	hydrocephaly	J:194096
	increased neuron apoptosis	J:194096
	normal nervous system phenotype	J:194096

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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