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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Bbs4
Bardet-Biedl syndrome 4
MGI:2143311
83 phenotypes from 3 alleles in 6 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Bbs4Gt1Nk/Bbs4Gt1Nk
B6.129S7-Bbs4Gt1Nk 		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
Bbs4Gt1Nk/Bbs4Gt1Nk
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
Bbs4Gt1Nk/Bbs4Gt1Nk
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
Bbs4tm1b(EUCOMM)Hmgu/Bbs4+
B6N(Cg)-Bbs4tm1b(EUCOMM)Hmgu/J 		decreased exploration in new environment J:211773
decreased thigmotaxis J:211773
hyperactivity J:211773
increased startle reflex J:211773
Bbs4tm1b(EUCOMM)Hmgu/Bbs4tm1b(EUCOMM)Hmgu
B6N(Cg)-Bbs4tm1b(EUCOMM)Hmgu/J 		preweaning lethality, incomplete penetrance J:211773
Bbs4tm1Vcs/Bbs4tm1Vcs
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
Bbs4tm1Vcs/Bbs4tm1Vcs
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
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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory