|
|
| Nomenclature |
|
Symbol:
|
Krit1tm1Dmar
|
|
Name:
|
KRIT1, ankyrin repeat containing;
targeted mutation 1, Douglas Marchuk
|
|
MGI ID: |
MGI:2449693 |
|
Synonyms: |
Ccm1- |
|
Gene:
|
Krit1
Location:
Chr5:3803165-3844515 bp, + strand
Genetic Position: Chr5,
2.26 cM
|
|
Mutation origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:88138
|
|
Parent Cell Line:
| R1 (ES Cell) |
|
Strain of Origin:
|
(129X1/SvJ x 129S1/Sv)F1-Kitl+
|
|
Mutation description |
|
Allele
Type: | |
Targeted (Reporter) |
|
Mutations: | |
Insertion, Intragenic deletion |
| |
|
Mutation details: The majority of exon 6 and all of exon 7 was replaced with a lacZ reporter cassette, effectively deleting the first ankyrin repeat of the gene. At E8.5, no expression was detected in homozygous mutant mice by in situ hybridization. (J:88138)
|
|
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 Krit1 Mutation:
|
3 strains or lines available |
|
| References |
|
Original: |
J:88138
Whitehead KJ et al.,
"Ccm1 is required for arterial morphogenesis: implications for the etiology of human cavernous malformations."
Development 2004 Mar;131(6):1437-48
|
|
All: |
5 reference(s)
|
|