|
|
| Nomenclature |
|
Symbol:
|
Aaastm1Ahue
|
|
Name:
|
achalasia, adrenocortical insufficiency, alacrimia;
targeted mutation 1, Angela Huebner
|
|
MGI ID: |
MGI:3621812 |
|
Synonyms: |
Aaas- |
|
Gene:
|
Aaas
Location:
Chr15:102338247-102350759 bp, - strand
Genetic Position: Chr15,
57.49 cM
|
|
Mutation
origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:106908
|
|
Parent Cell Line:
| E14.1 (ES Cell) |
|
Strain of Origin:
|
129P2/OlaHsd
|
|
Mutation
description |
|
Allele
Type: | |
Targeted (knock-out) |
|
Mutations: | |
Insertion, Intragenic deletion |
| |
|
Mutation details: A neomycin resistance cassette replaced the start codon. Northern and Western blot failed to detect transcript or protein, respectively, in mutants. (J:106908)
|
|
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 Aaas Mutation:
|
9 strains or lines available |
|
| References |
|
Original: |
J:106908
Huebner A et al.,
"Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome."
Mol Cell Biol 2006 Mar;26(5):1879-87
|
|
All: |
1 reference(s)
|
|
Analysis Tools
