|
|
| Nomenclature |
|
Symbol:
|
Crtaptm1Brle
|
|
Name:
|
cartilage associated protein;
targeted mutation 1, Brendan Lee
|
|
MGI ID: |
MGI:3693334 |
|
Synonyms: |
Crtap- |
|
Gene:
|
Crtap
Location:
Chr9:114375134-114390675 bp, - strand
Genetic Position: Chr9,
64.39 cM, cytoband F3-F4
|
|
Mutation
origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:116096
|
|
Parent Cell Line:
| AB2.2 (ES Cell) |
|
Strain of Origin:
|
129S7/SvEvBrd-Hprtb-m2
|
|
Mutation
description |
|
Allele
Type: | |
Targeted (knock-out) |
|
Mutations: | |
Insertion, Intragenic deletion |
| |
|
Mutation details: A neomycin resistance cassette replaced part of exon 1 and all of exon 2. Absence of transcript was confirmed by Northern blot and RT-PCR analyses. (J:116096)
|
|
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:116096
Morello R et al.,
"CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta."
Cell 2006 Oct 20;127(2):291-304
|
|
All: |
3 reference(s)
|
|
Analysis Tools
