|
|
| Nomenclature |
|
Symbol:
|
Sh3pxd2bGt(GST_1527_E5)Lex
|
|
Name:
|
SH3 and PX domains 2B;
gene trap GST_1527_E5, Lexicon Genetics
|
|
MGI ID: |
MGI:4439499 |
|
Gene:
|
Sh3pxd2b
Location:
Chr11:32347820-32428173 bp, + strand
Genetic Position: Chr11,
18.89 cM
|
|
Mutation
origin |
|
Mutant Cell Line:
| GST_1527_E5 (Lexicon Genetics) |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:158635
|
|
Parent Cell Line:
| Not Specified (ES Cell) |
|
Strain of Origin:
|
Not Specified
|
|
Mutation
description |
|
Allele
Type: | |
Gene trapped |
|
Mutation: | |
Insertion of gene trap vector Vector: VICTR48 Vector Type: gene trap |
| |
|
Mutation details: The gene trap vector inserted between exon 3 and 4. The absence of protein expression was confirmed by western blot analysis on E12.5 fibroblast extracts. (J:158635)
|
|
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)
|
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
|
Carrying any Sh3pxd2b Mutation:
|
4 strains or lines available |
|
| References |
|
Original: |
J:158635
Iqbal Z et al.,
"Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome."
Am J Hum Genet 2010 Feb 12;86(2):254-61
|
|
All: |
1 reference(s)
|
|
Analysis Tools
