|
|
| Nomenclature |
|
Symbol:
|
Slc7a11sut
|
|
Name:
|
solute carrier family 7 (cationic amino acid transporter, y+ system), member 11;
subtle gray
|
|
MGI ID: |
MGI:1857061 |
|
Synonyms: |
sut |
|
Gene:
|
Slc7a11
Location:
Chr3:50364936-50443613 bp, - strand
Genetic Position: Chr3,
21.72 cM, cytoband D
|
|
Mutation
origin |
|
Strain of Origin:
|
C3H/HeSnJ
|
|
Mutation
description |
|
Allele
Type: | |
Spontaneous |
|
Mutations: | |
Insertion, Intragenic deletion |
| |
|
Mutation details: Sequencing revealed a large deletion extending from intron 11 through exon 12 and into the intergenic region, creating a new splice site and the replacement of exon 12 with exon 12'. 3' RACE revealed a new stop codon in exon 12' and predicted a modified and truncated protein carboxyl terminus. (J:100476)
|
|
Inheritance: | |
Recessive |
|
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)
|
|
Notes |
Phenotypic Similarity to Human Syndrome: Hermansky-Pudlak Syndrome (J:31616)
|
| References |
|
Original: |
J:14274
Lane PW,
"Subtle gray (sut); small with kinky tail (skt)"
Mouse News Lett 1988;80():165
|
|
All: |
8 reference(s)
|
|
Analysis Tools
