Mouse Genome Informatics
hm
    Acancmd/Acancmd
involves: STOCK T tlow Itpr3tf
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• die due to breathing failure just after birth

hearing/vestibular/ear
• in organ of Corti, high density cystic formations are observed in Nuel's space and the tunnel of Corti
• hair cells are absent in the first cochlear turn and in organ of Corti
• no nerve fibers or nerve endings are observed in the first cochlear turn
• responses can not be evoked with stimuli under 80 db
• homozygotes display marked hearing loss

growth/size/body
• thoracic cavity volume is decreased by 38%
• disproportionate, dwarfed stature
• short trunks, limbs, tails, snout

homeostasis/metabolism
• volume of amniotic fluid is 8 times greater in mutants on E18

respiratory system
• at E18, primary saccules are more numerous, appear compressed and parenchymal cells are less organized
• at E18, lungs are smaller than wild-type but normal in shape

nervous system
• hair cells are absent in the first cochlear turn and in organ of Corti
• no nerve fibers or nerve endings are observed in the first cochlear turn

craniofacial

digestive/alimentary system

skeleton
• abnormally high fibronectin production by chrondrocytes results in aberrant cartilage
• in chondrocyte cultures, the defects in the cartilage produced can be ameliorated by the addition of cartilage proteoglycan monomer

Mouse Models of Human Disease
OMIM IDRef(s)
Achondroplasia; ACH 100800 J:5952 , J:30795