Phenotypes Associated with This Genotype

Genotype
MGI:2664326

• Allelic Composition: Col11a2^tm1Mne/Col11a2^tm1Mne
• Genetic Background: FVB.129-Col11a2^tm1Mne

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

craniofacial

abnormal cranium morphology ( J:71948 )

• homozygotes display a steeper skull slope

• no cleft palate is observed

abnormal nasal bone morphology ( J:71948 )

• 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

triangular face ( J:71948 )

• homozygotes display a triangular face

prominent forehead ( J:71948 )

• homozygotes display a relatively bulged forehead

short snout ( J:71948 )

growth/size/body

abnormal nasal bone morphology ( J:71948 )

• 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

triangular face ( J:71948 )

• homozygotes display a triangular face

prominent forehead ( J:71948 )

• homozygotes display a relatively bulged forehead

short snout ( J:71948 )

decreased body size ( J:71948 )

• at birth, homozygotes are ~25% smaller than wild-type

postnatal growth retardation ( J:71948 )

• homozygotes continue to be slightly smaller than wild-type up to 2 years of age

hearing/vestibular/ear

abnormal tectorial membrane morphology ( J:58794 )

• 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

enlarged tectorial membrane ( J:58794 )

increased or absent threshold for auditory brainstem response ( J:58794 , J:71948 )

• 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)

impaired hearing ( J:58794 , J:71948 )

• at 4 months, homozygotes fail to respond to loud noise, suggesting a hearing deficit (J:71948)

nonsyndromic hearing loss ( J:58794 )

sensorineural hearing loss ( J:58794 )

• at 5-6 months of age, homozygotes exhibit a moderate-to-severe sensorineural hearing loss that primarily affects mid-frequencies

skeleton

abnormal cranium morphology ( J:71948 )

• homozygotes display a steeper skull slope

• no cleft palate is observed

abnormal nasal bone morphology ( J:71948 )

• 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

disorganized long bone epiphyseal plate ( J:71948 )

• 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

abnormal chondrocyte morphology ( J:71948 )

• 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

abnormal articular cartilage morphology ( J:71948 )

• at 1 month, all mutant articular cartilages are significantly thinner, in the absence of significant erosion

respiratory system

abnormal nasal bone morphology ( J:71948 )

• 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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant nonsyndromic deafness 13		DOID:0110545	OMIM:601868	J:71948
otospondylomegaepiphyseal dysplasia, autosomal recessive		DOID:0080026	OMIM:215150	J:71948
Stickler syndrome		DOID:0080046	OMIM:PS108300	J:71948