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Protein Coding Gene : Creld1 cysteine-rich with EGF-like domains 1
Primary Identifier  MGI:2152539 Organism  mouse, laboratory
Chromosome  6 NCBI Gene Number  171508
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Predicted to enable calcium ion binding activity and protein disulfide isomerase activity. Predicted to be an extracellular matrix structural constituent. Is active in glutamatergic synapse. Is expressed in branchial arch; heart; and nervous system. Human ortholog(s) of this gene implicated in atrioventricular septal defect and heart septal defect. Orthologous to human CRELD1 (cysteine rich with EGF like domains 1).
PHENOTYPE: Homozygous KO is embryonic lethal: abnormal vasculature and brain and craniofacial development and reduced atrioventricular cushion size at E10.5. [provided by MGI curators]
  • synonyms:
  • cysteine-rich with EGF-like domains 1,
  • MGI:2141490,
  • AI843811,
  • Creld1,
  • expressed sequence AI843811
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