Bbs7^tm1Vcs
Targeted Allele Detail

Summary

• Symbol: Bbs7^tm1Vcs
• Name: Bardet-Biedl syndrome 7; targeted mutation 1, Val C Sheffield
• MGI ID: MGI:5315475
• Gene: Bbs7 Location: Chr3:36627291-36667626 bp, - strand Genetic Position: Chr3, 17.72 cM, cytoband B
• Alliance: Bbs7^tm1Vcs page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:181886
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 5 was replaced with a neomycin cassette. This causes a frameshift resulting in a null allele. The absence of expressed transcript was verified by RT-PCR analysis using RNA isolated from homozygous mutant mouse testes with primers within exon 5. The absence of the encoded protein was confirmed by western blotting of homogenates of homozygous mutant mouse testes. (J:226740)

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Bbs7 Mutation: 43 strains or lines available

Notes

Phenotypic Similarity to Human Syndrome: Bardet-Biedl Syndrome in mice homozygous for Bbs7^tm1Vcs (J:226740)

References

• Original: J:181886 Zhang Q, et al., BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes. Hum Mol Genet. 2012 May 1;21(9):1945-53
• All: 4 reference(s)