B6.129-Bbs2^tm1Vcs/J

Stock number: 010727
Research areas: Developmental Biology Research, Diabetes and Obesity Research, Internal/Organ Research, Neurobiology Research, Reproductive Biology Research, Sensorineural Research

Description

Homozygous Bbs2 (Bardet-Biedl syndrome 2 (human)) targeted mutant animals develop obesity that increases with age. They have phenotypes associated with selective cilia dysfunction, including retinopathy, renal cysts, and a deficit in olfaction. Male sperm do not develop flagella, causing infertility. Mice also exhibit a defect in social function. This strain may be useful as a model for Bardet-Biedl syndrome.

Detailed description

Homozygous targeted mutant animals develop obesity that increases with age (cause unknown). They have phenotypes associated with selective cilia dysfunction, including retinopathy, renal cysts, and a deficit in olfaction. Retinal degeneration is characterized by a mislocalization of rhodopsin followed by photoreceptor apoptosis. Male sperm do not develop flagella, causing infertility. Heterozygous crosses produce fewer homozygotes than predicted by Mendelian ratios. Mice also exhibit a defect in social function. This strain may be useful as a model for Bardet-Biedl syndrome.

Development

Exons 5-13 of the targeted gene were replaced with a neomycin resistance cassette. The mutation was created in (129X1/SvJ x 129S1/Sv)F1- Kitl⁺-derived R1 embryonic stem (ES) cells. This strain was backcrossed seven times to C57BL/6 by the donating laboratory.

Allele

Symbol: Bbs2^tm1Vcs
Name: targeted mutation 1, Val C Sheffield
MGI accession ID: MGI:3521669
Generation method: Targeted
Attributes: Null/Knockout
Synonyms: Bbs2^-
Marker symbol: Bbs2
Marker name: Bardet-Biedl syndrome 2 (human)
Marker synonyms: 2410125H22Rik; BBS; RP74
Chromosome: 8
Strain of origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺
Molecular note: Exons 5-13 were replaced with a neo. Northern blot showed a lack of transcript in mutant kidney samples.