About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Bbs1Gt1Nk
gene trap 1, Nicholas Katsanis
MGI:3055491
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Bbs1Gt1Nk/Bbs1Gt1Nk involves: 129S7/SvEvBrd MGI:3608973
hm2
 		Bbs1Gt1Nk/Bbs1Gt1Nk involves: 129S7/SvEvBrd * C57BL/6J MGI:3055584
cx3
 		Bbs1Gt1Nk/Bbs1+
Vangl2Lp/Vangl2+ 		involves: 129S7/SvEvBrd * LPT/LeJ MGI:3608975


Genotype
MGI:3608973
hm1
Allelic
Composition		 Bbs1Gt1Nk/Bbs1Gt1Nk
Genetic
Background		 involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bbs1Gt1Nk mutation (1 available); any Bbs1 mutation (71 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear
abnormal outer hair cell stereociliary bundle morphology ( J:102697 )
• some outer hair cell stereociliary hair bundles have a flattened shape
abnormal orientation of outer hair cell stereociliary bundles ( J:102697 )
• some outer hair cell stereociliary hair bundles are misoriented

nervous system
abnormal outer hair cell stereociliary bundle morphology ( J:102697 )
• some outer hair cell stereociliary hair bundles have a flattened shape
abnormal orientation of outer hair cell stereociliary bundles ( J:102697 )
• some outer hair cell stereociliary hair bundles are misoriented




Genotype
MGI:3055584
hm2
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 (71 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
abnormal olfactory epithelium cilium morphology ( J:92950 )
• olfactory cilia lack stable microtubules and the ciliary layer is thinner compared to wild-type

mortality/aging
embryonic lethality during organogenesis, incomplete penetrance ( J:92950 )
• 40-50% embryonic lethality is seen at E10.5

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

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 1 DOID:0110123 OMIM:209900
 J:92950
obesity DOID:9970 OMIM:601665
 J:92950




Genotype
MGI:3608975
cx3
Allelic
Composition		 Bbs1Gt1Nk/Bbs1+
Vangl2Lp/Vangl2+
Genetic
Background		 involves: 129S7/SvEvBrd * LPT/LeJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bbs1Gt1Nk mutation (1 available); any Bbs1 mutation (71 available)
Vangl2Lp mutation (2 available); any Vangl2 mutation (34 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
embryonic lethality during organogenesis, incomplete penetrance ( J:102697 )
• 7% of double heterozygotes die by E13.5

hearing/vestibular/ear
abnormal outer hair cell stereociliary bundle morphology ( J:102697 )
• some outer hair cell stereociliary hair bundles have a flattened shape
abnormal orientation of outer hair cell stereociliary bundles ( J:102697 )
• some outer hair cell stereociliary hair bundles are misoriented

nervous system
abnormal outer hair cell stereociliary bundle morphology ( J:102697 )
• some outer hair cell stereociliary hair bundles have a flattened shape
abnormal orientation of outer hair cell stereociliary bundles ( J:102697 )
• some outer hair cell stereociliary hair bundles are misoriented




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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory