Mouse Genome Informatics
hm
    Bbs4Gt1Nk/Bbs4Gt1Nk
involves: 129S7/SvEvBrd * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• 40-50% embryonic lethality is seen at E10.5

growth/size
• olfactory cilia lack stable microtubules and the ciliary layer is thinner compared to wild-type
• the apical dendrites are distorted rather than projecting straight to the surface as in wild-type mice
• all homozygotes are runts at birth, however no mutants display polydactyly, situs inversus, or renal or liver abnormalities unlike humans with BBS mutations
• by 10 weeks of age 10% of homozygotes are obese

taste/olfaction
• olfactory cilia lack stable microtubules and the ciliary layer is thinner compared to wild-type
• the apical dendrites are distorted rather than projecting straight to the surface as in wild-type mice
• olfactory epithelium shows little of no response to a wide variety of odorants

vision/eye
• 30% of homozygotes develop retinal degeneration

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

respiratory system
• olfactory cilia lack stable microtubules and the ciliary layer is thinner compared to wild-type
• the apical dendrites are distorted rather than projecting straight to the surface as in wild-type mice

craniofacial
• olfactory cilia lack stable microtubules and the ciliary layer is thinner compared to wild-type
• the apical dendrites are distorted rather than projecting straight to the surface as in wild-type mice

Mouse Models of Human Disease
OMIM IDRef(s)
Bardet-Biedl Syndrome; BBS 209900 J:92950
Obesity 601665 J:92950