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Phenotypes Associated with This Genotype
Genotype
MGI:3694235
Allelic
Composition
Acancmd/Acancmd
Genetic
Background
involves: STOCK T tlow Itpr3tf
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acancmd mutation (1 available); any Acan mutation (23 available)
phenotype observed in females
phenotype observed in males
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 ID Ref(s)
Achondroplasia; ACH 100800 J:5952 , J:30795


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory