Bbs1^Gt1Nk
Gene trapped Allele Detail

Summary

• Symbol: Bbs1^Gt1Nk
• Name: Bardet-Biedl syndrome 1; gene trap 1, Nicholas Katsanis
• MGI ID: MGI:3055491
• Synonyms: Bbs1^-
• Gene: Bbs1 Location: Chr19:4936906-4956656 bp, - strand Genetic Position: Chr19, 4.14 cM
• Alliance: Bbs1^Gt1Nk page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:92950
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Gene trapped (Null/knockout)
• Mutation: Insertion of gene trap vector
• A gene trap vector was inserted into intron 11, causing aberrant splicing as shown by RT-PCR. (J:92950)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Bbs1 Mutation: 70 strains or lines available

References

• Original: J:92950 Kulaga HM, et al., Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet. 2004 Sep;36(9):994-8
• All: 3 reference(s)