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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 (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die due to breathing failure just after birth (J:553)
• die due to breathing failure just after birth (J:553)

hearing/vestibular/ear
• in organ of Corti, high density cystic formations are observed in Nuel's space and the tunnel of Corti (J:553)
• in organ of Corti, high density cystic formations are observed in Nuel's space and the tunnel of Corti (J:553)
• hair cells are absent in the first cochlear turn and in organ of Corti (J:553)
• hair cells are absent in the first cochlear turn and in organ of Corti (J:553)
• hair cells are fused (J:553)
• hair cells are fused (J:553)
• no nerve fibers or nerve endings are observed in the first cochlear turn (J:553)
• no nerve fibers or nerve endings are observed in the first cochlear turn (J:553)
• responses can not be evoked with stimuli under 80 db (J:553)
• responses can not be evoked with stimuli under 80 db (J:553)
• homozygotes display marked hearing loss (J:553)
• homozygotes display marked hearing loss (J:553)

growth/size/body
• thoracic cavity volume is decreased by 38% (J:23353)
• thoracic cavity volume is decreased by 38% (J:23353)
• disproportionate, dwarfed stature (J:553)
• short trunks, limbs, tails, snout (J:553)
• disproportionate, dwarfed stature (J:553)
• short trunks, limbs, tails, snout (J:553)

homeostasis/metabolism
• volume of amniotic fluid is 8 times greater in mutants on E18 (J:23353)
• volume of amniotic fluid is 8 times greater in mutants on E18 (J:23353)

respiratory system
• at E18, primary saccules are more numerous, appear compressed and parenchymal cells are less organized (J:23353)
• at E18, primary saccules are more numerous, appear compressed and parenchymal cells are less organized (J:23353)
• at E18, lungs are smaller than wild-type but normal in shape (J:23353)
• at E18, lungs are smaller than wild-type but normal in shape (J:23353)

nervous system
• hair cells are absent in the first cochlear turn and in organ of Corti (J:553)
• hair cells are absent in the first cochlear turn and in organ of Corti (J:553)
• hair cells are fused (J:553)
• hair cells are fused (J:553)
• no nerve fibers or nerve endings are observed in the first cochlear turn (J:553)
• no nerve fibers or nerve endings are observed in the first cochlear turn (J:553)

craniofacial

digestive/alimentary system

skeleton
• abnormally high fibronectin production by chrondrocytes results in aberrant cartilage (J:1535)
• in chondrocyte cultures, the defects in the cartilage produced can be ameliorated by the addition of cartilage proteoglycan monomer (J:1535)
• abnormally high fibronectin production by chrondrocytes results in aberrant cartilage (J:1535)
• in chondrocyte cultures, the defects in the cartilage produced can be ameliorated by the addition of cartilage proteoglycan monomer (J:1535)

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
01/26/2016
MGI 6.02
The Jackson Laboratory