Phenotypes Associated with This Genotype

Genotype
MGI:5643856

• Allelic Composition: Tg(Col1a1-tTA)139Niss/0; Tg(tetO-HTR4*D100A)2Niss/0
• Genetic Background: FVB/N-Tg(Col1a1-tTA)139Niss Tg(tetO-HTR4*D100A)2Niss

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

growth/size/body

decreased body height ( J:131617 )

skeleton

abnormal skeleton morphology ( J:131617 , J:216100 )

• mice exhibit asymmetric enlargement of the skeleton, with progressive increase in bone accumulation starting at 3 weeks of age (J:131617)

• mice develop a fibrous dysplastic bone phenotype postnatally (J:216100)

abnormal middle ear ossicle morphology ( J:216100 )

• in some mice, the ossicles are malformed and are affected with increased bone

increased bone mineral density ( J:131617 )

• massive increase in bone mineral density at 9 weeks of age

abnormal osteocyte morphology ( J:216100 )

• abnormal osteocyte morphology in the canalicular network

osteosclerosis ( J:131617 )

• mice exhibit an osteosclerotic phenotype, with increased bone mineral

abnormal bone remodeling ( J:216100 )

• marker analysis indicates defective regulation of bone remodeling in the cochlea

• marker analysis indicates disrupted perilacunar remodeling in cochlea

craniofacial

abnormal middle ear ossicle morphology ( J:216100 )

• in some mice, the ossicles are malformed and are affected with increased bone

hearing/vestibular/ear

abnormal middle ear ossicle morphology ( J:216100 )

• in some mice, the ossicles are malformed and are affected with increased bone

abnormal inner ear morphology ( J:216100 )

• mice show aggressive bony and fibrous overgrowths that surround the otic capsule and the adjacent vestibular labyrinth

• mice exhibit normal stria vascularis, organ of Corti, tunnel of Corti and intact sensorineural structures of the cochlea and no lesions involving the inner cortex of the otic capsule or centrally in the bony spiral modiolus are seen

abnormal cochlea morphology ( J:216100 )

• most, but not all, cochleae have multiple spongy, bony overgrowths involving the bulla, cochlear apex, and labyrinth

• the degree of bone lesion severity correlates with the amount of hearing loss

• the fibrodysplatic-like lesions often increase the thickness of the outer wall of the cochlea and the midmodiolar bone separating the apical scala

• highly disorganized dendritic processes and abnormal osteocyte morphology are seen in the canalicular network compared to the aligned canalicular organization in wild-type cochlea

abnormal otic capsule morphology ( J:216100 )

• thicker otic capsule wall

increased or absent threshold for auditory brainstem response ( J:216100 )

• mice show ABR threshold elevations in response to click- and frequency-specific tone-burst stimuli at 8, 16, and 32 kHz

• increase in ABR threshold is higher in 10-12 week old mice than in 6 week old mice, indicating progressive decline in hearing

abnormal distortion product otoacoustic emission ( J:216100 )

• distortion product otoacoustic emission (DPOAE) response is reduced to a level close to or below the background noise level

conductive hearing loss ( J:216100 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
McCune Albright syndrome		DOID:1858	OMIM:174800	J:216100