Phenotypes Associated with This Genotype

Genotype
MGI:3055585

• Allelic Composition: Bbs4^Gt1Nk/Bbs4^Gt1Nk
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:92950 )

• 40-50% embryonic lethality is seen at E10.5

cellular

abnormal olfactory epithelium cilium morphology ( J:92950 )

• olfactory cilia lack stable microtubules and the ciliary layer is thinner compared to wild-type

growth/size/body

abnormal olfactory epithelium cilium morphology ( J:92950 )

• olfactory cilia lack stable microtubules and the ciliary layer is thinner compared to wild-type

abnormal olfactory sensory neuron morphology ( J:92950 )

• the apical dendrites are distorted rather than projecting straight to the surface as in wild-type mice

decreased birth body size ( J:92950 )

• all homozygotes are runts at birth, however no mutants display polydactyly, situs inversus, or renal or liver abnormalities unlike humans with BBS mutations

obese ( J:92950 )

• by 10 weeks of age 10% of homozygotes are obese

taste/olfaction

abnormal olfactory epithelium cilium morphology ( J:92950 )

• olfactory cilia lack stable microtubules and the ciliary layer is thinner compared to wild-type

abnormal olfactory sensory neuron morphology ( J:92950 )

• the apical dendrites are distorted rather than projecting straight to the surface as in wild-type mice

abnormal olfaction ( J:92950 )

• olfactory epithelium shows little or no response to a wide variety of odorants

vision/eye

retina degeneration ( J:92950 )

• 30% of homozygotes develop retinal degeneration

nervous system

abnormal olfactory sensory neuron morphology ( J:92950 )

• the apical dendrites are distorted rather than projecting straight to the surface as in wild-type mice

respiratory system

abnormal olfactory epithelium cilium morphology ( J:92950 )

• olfactory cilia lack stable microtubules and the ciliary layer is thinner compared to wild-type

abnormal olfactory sensory neuron morphology ( J:92950 )

• the apical dendrites are distorted rather than projecting straight to the surface as in wild-type mice

craniofacial

abnormal olfactory epithelium cilium morphology ( J:92950 )

• olfactory cilia lack stable microtubules and the ciliary layer is thinner compared to wild-type

abnormal olfactory sensory neuron morphology ( J:92950 )

• the apical dendrites are distorted rather than projecting straight to the surface as in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Bardet-Biedl syndrome 4		DOID:0110126	OMIM:615982	J:92950
obesity		DOID:9970	OMIM:601665	J:92950