Bbs1<tm1Vcs> Targeted Allele Detail MGI Mouse (MGI:3767672)

Bbs1^tm1Vcs
Targeted Allele Detail

Summary

Symbol:	Bbs1^tm1Vcs
Name:	Bardet-Biedl syndrome 1; targeted mutation 1, Val C Sheffield
MGI ID:	MGI:3767672
Synonyms:	Bbs1^M390R
Gene:	Bbs1 Location: Chr19:4936906-4956656 bp, - strand Genetic Position: Chr19, 4.14 cM
Alliance:	Bbs1^tm1Vcs page

Sperm flagella loss and photoreceptor defects in Bbs1^tm1Vcs/Bbs1^tm1Vcs mice

Show the 4 phenotype image(s) involving this allele.

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:128532
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation
description

Allele Type:		Targeted
Mutations:		Insertion, Single point mutation
		Mutation details: The methionine codon (ATG) at position 390 in exon 12 was replaced with an arginine codon (AGG) and a neo cassette was inserted into intron 12 via homologous recombination. Northern blot analysis indicated that mRNA expression is not reduced in homozygous brains. (J:128532)

Phenotypes

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

Disease models

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: 2 strains available Cell Lines: 0 lines available
Carrying any Bbs1 Mutation:	71 strains or lines available

References

Original:	J:128532 Davis RE, et al., A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Proc Natl Acad Sci U S A. 2007 Dec 4;104(49):19422-7
All:	21 reference(s)

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)
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