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)

Disease models

Expression

In Structures Affected by this Mutation:

12 anatomical structure(s)

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: 70 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: 20 reference(s)