|
|
| Nomenclature |
|
Symbol:
|
Abca12el12
|
|
Name:
|
ATP-binding cassette, sub-family A (ABC1), member 12;
embryonic lethal 12
|
|
MGI ID: |
MGI:4461044 |
|
Synonyms: |
Abca1G1997D |
|
Gene:
|
Abca12
Location:
Chr1:71243090-71414910 bp, - strand
Genetic Position: Chr1,
35.81 cM
|
|
Mutation
origin |
|
Mutation
description |
|
Allele
Type: | |
Chemically induced (ENU) |
|
Mutation: | |
Single point mutation |
| |
|
Mutation details: ENU mutagenesis induced a G to A transition in exon 41 resulting in the amino acid substitution of aspartic acid for glycine at position 1997 (G1997D). (J:161652)
|
|
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)
|
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
|
Carrying any Abca12 Mutation:
|
3 strains or lines available |
|
| References |
|
Original: |
J:161652
Smyth I et al.,
"A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis."
PLoS Genet 2008;4(9):e1000192
|
|
All: |
1 reference(s)
|
|
Analysis Tools
