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Protein Coding Gene : Matr3 matrin 3
Primary Identifier  MGI:1298379 Organism  mouse, laboratory
Chromosome  18 NCBI Gene Number  17184
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable identical protein binding activity and miRNA binding activity. Acts upstream of or within blastocyst formation; heart valve development; and ventricular septum development. Located in nucleus. Is expressed in several structures, including blood vessel layer; branchial arch; heart; lung; and telencephalon. Used to study amyotrophic lateral sclerosis type 21. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis type 21. Orthologous to human MATR3 (matrin 3).
PHENOTYPE: Mice homozygous for a gene-trapped allele are early embryonic lethal. Heterozygotes show congenital heart defects including abnormal heart apex morphology, subaortic ventricular septal defects, double-outlet right ventricle, bicuspid aortic valve, aorta coarctation, and patent ductus arteriosus. [provided by MGI curators]
  • synonyms:
  • 1110061A14Rik,
  • D030046F20Rik,
  • MGI:2147377,
  • expressed sequence AW555618,
  • Matr3,
  • MGI:2147265,
  • MGI:1917217,
  • expressed sequence AI841759,
  • AI841759,
  • mKIAA0723,
  • matrin 3,
  • MGI:1916077,
  • MGI:3026954,
  • RIKEN cDNA 1110061A14 gene,
  • RIKEN cDNA 2810017I02 gene,
  • 2810017I02Rik,
  • AW555618,
  • RIKEN cDNA D030046F20 gene
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