Mine Disruption Phenotype

Gene Info

  • Species:Mouse (Mus musculus)
  • GeneID:14186
  • Symbol:Fgfr4
  • Description:fibroblast growth factor receptor 4
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Gene ID Entry Entry Name Protein Name Type Information
14186 Q03142 FGFR4_MOUSE Fibroblast growth factor receptor 4 (FGFR-4) (EC 2.7.10.1) (Protein-tyrosine kinase receptor MPK-11) (CD antigen CD334) DISRUPTION PHENOTYPE No visible phenotype. Mice display an elevated bile acid pool and elevated excretion of bile acids, due to loss of normal regulation of CYP7A1, the rate-limiting enzyme in bile acid synthesis. When on a normal diet, mice are prone to develop increased levels of white adipose tissue, hyperlipidemia, hypercholesterolemia, glucose intolerance and insulin resistance. Mice lacking both FGFR3 and FGFR4 display pronounced dwarfism, and while their lungs appear normal at birth, they are completely blocked in alveogenesis and do not form secondary septae to delimit alveoli. These mice also show elevated serum levels of 1,25-dihydroxyvitamin D3 and reduced serum phosphorus levels. {ECO:0000269|PubMed:10809780, ECO:0000269|PubMed:17664243, ECO:0000269|PubMed:19237543, ECO:0000269|PubMed:21561999, ECO:0000269|PubMed:9716527}.