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FLASH GENE
Symbol COL4A1 contributors: shn/mct - updated : 06-11-2017
HGNC name collagen, type IV, alpha 1
HGNC id 2202
ANIMAL & CELL MODELS
  • Col4a1 mutant mouse develops porencephaly secondary to focal disruptions of vascular basement membranes and dies with cerebral hemorrhage within a day of birth (Gould et al, 2005)
  • Col4a1 mutant mice develop progressive skeletal myopathy
  • HANAC mutant mice presented with a muscular functional impairment and increased serum creatine kinase levels reflecting altered muscle fiber sarcolemma
  • heterozygous Col4a1 mutant mice have ocular dysgenesis, neuronal localization defects, and myopathy characteristic of MEB/WWS