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Phenotypes Associated with This Genotype
Genotype
MGI:3055584
Allelic
Composition
Bbs1Gt1Nk/Bbs1Gt1Nk
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bbs1Gt1Nk mutation (1 available); any Bbs1 mutation (49 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• olfactory cilia lack stable microtubules and the ciliary layer is thinner compared to wild-type

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

growth/size/body
• 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

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 ID Ref(s)
Bardet-Biedl Syndrome 1; BBS1 209900 J:92950
Obesity 601665 J:92950


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory