Bbs7<tm1Vcs> Targeted Allele Detail MGI Mouse (MGI:5315475)

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)

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Expression

In Structures Affected by this Mutation:

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)

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