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Phenotypes Associated with This Genotype
Genotype
MGI:2664326
Allelic
Composition
Col11a2tm1Mne/Col11a2tm1Mne
Genetic
Background
FVB.129-Col11a2tm1Mne
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col11a2tm1Mne mutation (0 available); any Col11a2 mutation (33 available)
phenotype observed in females
phenotype observed in males
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/body
• 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


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
11/29/2016
MGI 6.06
The Jackson Laboratory