Phenotypes Associated with This Genotype

Genotype
MGI:3694235

• Allelic Composition: Acan^cmd/Acan^cmd
• Genetic Background: involves: STOCK T t^low Itpr3^tf

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

neonatal lethality, complete penetrance ( J:553 )

• die due to breathing failure just after birth

hearing/vestibular/ear

abnormal organ of Corti morphology ( J:553 )

• in organ of Corti, high density cystic formations are observed in Nuel's space and the tunnel of Corti

absent cochlear outer hair cells ( J:553 )

• hair cells are absent in the first cochlear turn and in organ of Corti

abnormal cochlear inner hair cell morphology ( J:553 )

• hair cells are fused

abnormal cochlear IHC afferent innervation pattern ( J:553 )

• no nerve fibers or nerve endings are observed in the first cochlear turn

increased or absent threshold for auditory brainstem response ( J:553 )

• responses can not be evoked with stimuli under 80 db

deafness ( J:553 )

• homozygotes display marked hearing loss

growth/size/body

cleft palate ( J:553 )

small thoracic cavity ( J:23353 )

• thoracic cavity volume is decreased by 38%

disproportionate dwarf ( J:553 )

• disproportionate, dwarfed stature

• short trunks, limbs, tails, snout

homeostasis/metabolism

polyhydramnios ( J:23353 )

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

respiratory system

abnormal lung morphology ( J:23353 )

• at E18, primary saccules are more numerous, appear compressed and parenchymal cells are less organized

pulmonary hypoplasia ( J:23353 )

• at E18, lungs are smaller than wild-type but normal in shape

nervous system

absent cochlear outer hair cells ( J:553 )

• hair cells are absent in the first cochlear turn and in organ of Corti

abnormal cochlear inner hair cell morphology ( J:553 )

• hair cells are fused

abnormal cochlear IHC afferent innervation pattern ( J:553 )

• no nerve fibers or nerve endings are observed in the first cochlear turn

craniofacial

cleft palate ( J:553 )

digestive/alimentary system

cleft palate ( J:553 )

skeleton

abnormal cartilage development ( J:1535 )

• 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		DO ID	OMIM ID(s)	Ref(s)
achondroplasia		DOID:4480	OMIM:100800	J:5952 , J:30795