|
|
| Nomenclature |
|
Symbol:
|
Bbs4tm1Vcs
|
|
Name:
|
Bardet-Biedl syndrome 4 (human);
targeted mutation 1, Val C Sheffield
|
|
MGI ID: |
MGI:3045473 |
|
Synonyms: |
Bbs4-, Bbs4tm1Shef |
|
Gene:
|
Bbs4
Location:
Chr9:59321966-59353508 bp, - strand
Genetic Position: Chr9,
32.01 cM
|
|
Examination of wild-type and Bbs4tm1Vcs/Bbs4tm1Vcs mouse retina
Show the 2 image(s) involving this allele.
|
 |
|
Mutation
origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:90812
|
|
Parent Cell Line:
| R1 (ES Cell) |
|
Strain of Origin:
|
(129X1/SvJ x 129S1/Sv)F1-Kitl+
|
|
Mutation
description |
|
Allele
Type: | |
Targeted (knock-out) |
|
Mutations: | |
Insertion, Intragenic deletion |
| |
|
Mutation details: Exons 6-11 were replaced with a neo cassette, removing approximately one-third of the coding sequence and resulting in a frameshift. Northern blot indicated lack of transcript in kidneys of mutants. (J:90812)
|
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
| References |
|
Original: |
J:90812
Mykytyn K et al.,
"Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly."
Proc Natl Acad Sci U S A 2004 Jun 8;101(23):8664-9
|
|
All: |
11 reference(s)
|
|
Analysis Tools
