|
|
| Nomenclature |
|
Symbol:
|
Mks1krc
|
|
Name:
|
Meckel syndrome, type 1;
kerouac
|
|
MGI ID: |
MGI:4410614 |
|
Synonyms: |
krc |
|
Gene:
|
Mks1
Location:
Chr11:87853215-87863803 bp, + strand
Genetic Position: Chr11,
52.24 cM
|
|
Mutation
origin |
|
Strain of Origin:
|
C57BL/6
|
|
Mutation
description |
|
Allele
Type: | |
Chemically induced (ENU) |
|
Mutation: | |
Single point mutation |
| |
|
Mutation details: ENU induced a T to C transition in the splice donor site within intron 5 (c.515+6T>C) causing a 21 bp insertion with an inframe nonsense codon (E173Stop). The absence of wild-type transcript was confirmed by RT-PCR. The predicted protein is truncated after 172 of 561 amino acids prior to the B9 domain. (J:154075)
|
|
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 Mks1 Mutation:
|
3 strains or lines available |
|
| References |
|
Original: |
J:154075
Weatherbee SD et al.,
"A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling."
Hum Mol Genet 2009 Dec 1;18(23):4565-75
|
|
All: |
1 reference(s)
|
|
Analysis Tools
