Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Aaastm1Ahue
Name:	achalasia, adrenocortical insufficiency, alacrimia; targeted mutation 1, Angela Huebner
MGI ID:	MGI:3621812
Synonyms:	Aaas-
Gene:	Aaas  Location: Chr15:102246682-102259194 bp, - strand  Genetic Position: Chr15, 57.49 cM
Alliance:	Aaastm1Ahue page

Germline Transmission:	Earliest citation of germline transmission: J:106908
Parent Cell Line:	E14.1 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Null/knockout) 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:	30 strains or lines available

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:	3 reference(s)