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Protein Coding Gene : Frem2 Fras1 related extracellular matrix protein 2

Primary Identifier  MGI:2444465 Organism  mouse, laboratory
Chromosome  3 NCBI Gene Number  242022
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.4.0)

Predicted to enable metal ion binding activity. Involved in eye development. Acts upstream of or within several processes, including embryonic digit morphogenesis; heart development; and inner ear development. Located in basement membrane. Is expressed in several structures, including alimentary system; central nervous system; integumental system; intraembryonic coelom; and sensory organ. Used to study Fraser syndrome and isolated cryptophthalmia. Human ortholog(s) of this gene implicated in Fraser syndrome 2 and isolated cryptophthalmia. Orthologous to human FREM2 (FRAS1 related extracellular matrix 2).
PHENOTYPE: Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Kidney development is severely affected and syndactyly is common. Phenotypes of homozygous mutants are indistinguishable from those of Fras1 homozygous mutant. [provided by MGI curators]
  • synonyms:
  • Frem2,
  • 8430406N05Rik,
  • myelencephalic blebs,
  • 6030440P17Rik,
  • Fras1 related extracellular matrix protein 2,
  • MGI:97248,
  • Mutant line 1562,
  • MGI:5429775,
  • no eyelid,
  • b2b1562Clo,
  • my,
  • MGD-MRK-12734,
  • RIKEN cDNA 6030440P17 gene,
  • MGI:1918727,
  • RIKEN cDNA 8430406N05 gene,
  • MGI:3794301,
  • ne

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2 Involved In Mutations

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

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Canonical gene --> Transcripts in specific strains.

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