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Protein Coding Gene : Aaas achalasia, adrenocortical insufficiency, alacrimia

Primary Identifier  MGI:2443767 Organism  mouse, laboratory
Chromosome  15 NCBI Gene Number  223921
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0)

Acts upstream of or within fertilization and learning. Predicted to be located in cytosol; microtubule cytoskeleton; and nucleus. Predicted to be part of nuclear pore. Human ortholog(s) of this gene implicated in achalasia and triple-A syndrome. Orthologous to human AAAS (aladin WD repeat nucleoporin).
PHENOTYPE: Homozygous null mice display female infertility, mildly decreased exploratory behavior, and decreased body weight, but have normal adrenocortical function and do not develop severe neurological abnormalities. [provided by MGI curators]
  • synonyms:
  • Aaas,
  • D030041N15Rik,
  • Aladin,
  • RIKEN cDNA D030041N15 gene,
  • GL003,
  • achalasia, adrenocortical insufficiency, alacrimia

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

3 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

43 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For