Bbs4 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Bbs4
Bardet-Biedl syndrome 4
MGI:2143311

82 phenotypes from 3 alleles in 6 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Bbs4^Gt1Nk/Bbs4^Gt1Nk B6.129S7-Bbs4^Gt1Nk	abnormal miniature excitatory postsynaptic currents	J:279506
	decreased dendritic spine density	J:279506
	decreased dendritic spine length	J:279506
	enhanced autophagy	J:279506
	impaired contextual conditioning behavior	J:279506
	impaired cued conditioning behavior	J:279506
Bbs4^Gt1Nk/Bbs4^Gt1Nk involves: 129S7/SvEvBrd	abnormal blood homeostasis	J:134093
	abnormal circulating hormone level	J:134093
	abnormal circulating lipid level	J:134093
	abnormal circulating mineral level	J:134093
	abnormal cone electrophysiology	J:134093
	abnormal eye electrophysiology	J:134093
	abnormal liver morphology	J:134093
	abnormal liver physiology	J:134093
	abnormal neural tube morphology	J:134093
	abnormal ocular fundus morphology	J:134093
	abnormal orientation of outer hair cell stereociliary bundles	J:102697
	abnormal photoreceptor inner segment morphology	J:134093
	abnormal photoreceptor outer segment morphology	J:134093
	abnormal posterior eye segment morphology	J:134093
	abnormal retina morphology	J:134093
	abnormal retina photoreceptor layer morphology	J:134093
	abnormal retina pigment epithelium morphology	J:134093
	abnormal retina vasculature morphology	J:134093
	decreased aggression towards mice	J:134093
	decreased body size	J:134093
	decreased body weight	J:134093
	enlarged liver	J:134093
	hepatic steatosis	J:134093
	hydrometrocolpos	J:134093
	increased abdominal adipose tissue amount	J:134093
	increased anxiety-related response	J:134093
	increased blood urea nitrogen level	J:134093
	increased circulating alanine transaminase level	J:134093
	increased circulating alkaline phosphatase level	J:134093
	increased circulating aspartate transaminase level	J:134093
	increased circulating bilirubin level	J:134093
	increased circulating cholesterol level	J:134093
	increased circulating creatine kinase level	J:134093
	increased circulating glucose level	J:134093
	increased circulating HDL cholesterol level	J:134093
	increased circulating insulin level	J:134093
	increased circulating lactate dehydrogenase level	J:134093
	increased circulating LDL cholesterol level	J:134093
	increased circulating leptin level	J:134093
	increased circulating magnesium level	J:134093
	increased circulating sodium level	J:134093
	increased circulating VLDL cholesterol level	J:134093
	increased immunoglobulin level	J:134093
	increased susceptibility to age related obesity	J:134093
	increased thigmotaxis	J:134093
	kidney cyst	J:134093
	optic nerve atrophy	J:134093
	perinatal lethality, incomplete penetrance	J:134093
	renal glomerulus cyst	J:134093
Bbs4^Gt1Nk/Bbs4^Gt1Nk involves: 129S7/SvEvBrd * C57BL/6J	abnormal olfaction	J:92950
	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
Bbs4^{tm1b(EUCOMM)Hmgu}/Bbs4⁺ B6N(Cg)-Bbs4^{tm1b(EUCOMM)Hmgu}/J	decreased exploration in new environment	J:211773
	decreased thigmotaxis	J:211773
	hyperactivity	J:211773
Bbs4^{tm1b(EUCOMM)Hmgu}/Bbs4^{tm1b(EUCOMM)Hmgu} B6N(Cg)-Bbs4^{tm1b(EUCOMM)Hmgu}/J	preweaning lethality, incomplete penetrance	J:211773
Bbs4^tm1Vcs/Bbs4^tm1Vcs involves: 129S1/Sv * 129X1/SvJ	abnormal basal ganglion morphology	J:128532
	abnormal olfaction	J:94467
	abnormal placing response	J:94467
	abnormal renal tubule epithelial cell primary cilium morphology	J:137093
	decreased aggression	J:94467
	decreased grip strength	J:94467
	decreased salivation	J:94467
	enlarged lateral ventricles	J:128532
	enlarged third ventricle	J:128532
	hyporesponsive to tactile stimuli	J:94467
	small hippocampus	J:128532
	thin cerebral cortex	J:128532
Bbs4^tm1Vcs/Bbs4^tm1Vcs involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	absent sperm flagellum	J:90812
	decreased birth body size	J:90812
	decreased body weight	J:90812
	increased susceptibility to age-related retinal degeneration	J:90812
	increased total body fat amount	J:90812
	male infertility	J:90812
	obese	J:90812
	polyphagia	J:90812
	preweaning lethality, incomplete penetrance	J:90812

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