|
|
| Nomenclature |
|
Symbol:
|
Alms1L2131X
|
|
Name:
|
Alstrom syndrome 1;
L2131
|
|
MGI ID: |
MGI:3699224 |
|
Gene:
|
Alms1
Location:
Chr6:85587531-85702753 bp, + strand
Genetic Position: Chr6,
37.48 cM
|
|
Kidney abnormalities of Alms1L2131X/Alms1L2131X mice at 6 months of age
Show the 3 image(s) involving this allele.
|
 |
|
Mutation origin |
|
Strain of Origin:
|
C57BL/6
|
|
Mutation description |
|
Allele
Type: | |
Chemically induced (ENU) |
|
Mutation: | |
Nucleotide substitutions |
| |
|
Mutation details: This mutation causes premature truncation in exon 10, resulting in the coding of the N-terminal 2131 amino acids of the protein. (J:118221)
|
|
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 Alms1 Mutation:
|
9 strains or lines available |
|
| References |
|
Original: |
J:118221
Li G et al.,
"A Role for Alstrom Syndrome Protein, Alms1, in Kidney Ciliogenesis and Cellular Quiescence."
PLoS Genet 2007 Jan 5;3(1):e8
|
|
All: |
1 reference(s)
|
|