Mouse Genome Informatics
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    Col11a2tm1Mne/Col11a2tm1Mne
FVB.129-Col11a2tm1Mne
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
craniofacial
• homozygotes display a relatively bulged forehead and a steeper skull slope
• no cleft palate is observed
• mutant neonates show abnormal indentation and shape of the nasal bones, with a more inferior projection relative to wild-type
• the premaxilla bone remains unaffected
• homozygotes display a triangular face

growth/size
• homozygotes display a triangular face
• at birth, homozygotes are ~25% smaller than wild-type
• homozygotes continue to be slightly smaller than wild-type up to 2 years of age

hearing/vestibular/ear
• homozygotes exhibit a less compact tectorial membrane
• ultrastructurally, the tectorial membrane shows disorganized and widely spaced collagen fibrils instead of parallel, closely approximated collagen fibers
• no abnormalities in the inner and outer hair cells, non-sensory epithelial cells, organ of Corti, neural structures or stria vascularis are observed
• at 5-6 months of age, homozygotes exhibit a reduction in hearing sensitivity that averages 43 decibels (J:58794)
• abnormal click-evoked auditory brainstem response tests indicate a hearing deficit that primarily affects mid-frequencies (J:71948)
• at 4 months, homozygotes fail to respond to loud noise, suggesting a hearing deficit (J:71948)
• at 5-6 months of age, homozygotes exhibit a moderate-to-severe sensorineural hearing loss that primarily affects mid-frequencies

skeleton
• homozygotes display a relatively bulged forehead and a steeper skull slope
• no cleft palate is observed
• mutant neonates show abnormal indentation and shape of the nasal bones, with a more inferior projection relative to wild-type
• the premaxilla bone remains unaffected
• at 1 month, mutant chondrocytes in the growth plates of long bones appear disorganized, fail to align in columns, and their nuclei are often pyknotic
• despite abnormal growth plate disorganization, chondrocyte differentiation proceeds normally
• in mutant articular cartilage, chondrocytes fail to align in a columnar fashion and appear malformed
• however, no osteoarthritis is noted up to 1 year of age
• at 1 month, all mutant articular cartilages are significantly thinner, in the absence of significant erosion

Mouse Models of Human Disease
OMIM IDRef(s)
Deafness, Autosomal Dominant 13; DFNA13 601868 J:71948
Otospondylomegaepiphyseal Dysplasia; OSMED 215150 J:71948
Stickler Syndrome, Type III; STL3 184840 J:71948