Phenotypes Associated with This Genotype

Genotype
MGI:4360984

• Allelic Composition: n-TUtca2^tm1Dhat/n-TUtca2^tm1Dhat; Tg(Col2a1-cre)1Bhr/0
• Genetic Background: B6.Cg-n-TUtca2^tm1Dhat Tg(Col2a1-cre)1Bhr

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

Small size, hypomorphic ears and shortened snout in n-TUtca2^tm1Dhat/n-TUtca2^tm1Dhat Tg(Col2a1-cre)1Bhr/0 mice

mortality/aging

premature death ( J:152152 )

• at 4 to 5 weeks with rib cage indrawing suggestive of inspiratory respiratory distress

skeleton

abnormal skeleton morphology ( J:152152 )

• small skeleton

• however, the width of the radiolucent gap corresponding to the tibia epiphyseal growth plates is normal

abnormal cranium morphology ( J:152152 )

• rounding of the cranium

small cranium ( J:152152 )

abnormal neurocranium morphology ( J:152152 )

• rounding of the calvaria unlike in Trnau1^tm1Dhat homozygous control mice

abnormal frontal bone morphology ( J:152152 )

• frontal bones are more porous than in Trnau1^tm1Dhat homozygous control mice

frontal bossing ( J:152152 )

abnormal jaw morphology ( J:152152 )

• narrowing of the jaw unlike in Trnau1^tm1Dhat homozygous control mice

decreased length of long bones ( J:152152 )

abnormal vertebrae morphology ( J:152152 )

• the space between vertebral bodies is smaller than in Trnau1^tm1Dhat homozygous control mice

abnormal lumbar vertebrae morphology ( J:152152 )

• lumbar vertebrae are small with irregular outlines and have uneven ossification unlike in Trnau1^tm1Dhat homozygous control mice

abnormal cartilage morphology ( J:152152 )

• mice exhibit areas of chondronecrosis in the articular cartilage of the knees unlike in Trnau1^tm1Dhat homozygous control mice

• chondronecrosis is present in the femoral condylar and tibial plateau articular cartilage, auricular, and trachea

abnormal tracheal cartilage morphology ( J:152152 )

• mice exhibit hypoplasia and chondronecrosis with scattered apoptotic cells in the tracheal cartilage unlike in Trnau1^tm1Dhat homozygous control mice

• tracheal rings are reduced in size and chondrocyte content compared to in Trnau1^tm1Dhat homozygous control mice

abnormal long bone epiphyseal plate morphology ( J:152152 )

• the primary spongiosa is disorganized compared to in Trnau1^tm1Dhat homozygous control mice

abnormal long bone epiphyseal plate proliferative zone ( J:152152 )

• increased

increased width of hypertrophic chondrocyte zone ( J:152152 )

increased long bone epiphyseal plate size ( J:152152 )

• the tibia growth plate width is increased 45% compared to in Trnau1^tm1Dhat homozygous control mice

abnormal skeleton physiology ( J:152152 )

• proliferation of cells within the tibia growth plate is decrease while apoptosis is moderately increased compared to in Trnau1^tm1Dhat homozygous control mice

tracheomalacia ( J:152152 )

• mice exhibit tracheomalacia

abnormal bone mineralization ( J:152152 )

• long bone mineralization is impaired compared to in Trnau1^tm1Dhat homozygous control mice

delayed bone ossification ( J:152152 )

• lumbar vertebrae have uneven ossification unlike in Trnau1^tm1Dhat homozygous control mice

growth/size/body

frontal bossing ( J:152152 )

short snout ( J:152152 )

outer ear hypoplasia ( J:152152 )

• auricle hypoplasia

microcephaly ( J:152152 )

• decreased head size with frontal bossing

decreased body size ( J:152152 )

• 1 week after birth

decreased body length ( J:152152 )

• at 3.5 to 4 weeks but not at P1

postnatal growth retardation ( J:152152 )

hearing/vestibular/ear

outer ear hypoplasia ( J:152152 )

• auricle hypoplasia

respiratory system

abnormal tracheal cartilage morphology ( J:152152 )

• mice exhibit hypoplasia and chondronecrosis with scattered apoptotic cells in the tracheal cartilage unlike in Trnau1^tm1Dhat homozygous control mice

• tracheal rings are reduced in size and chondrocyte content compared to in Trnau1^tm1Dhat homozygous control mice

trachea stenosis ( J:152152 )

• mice exhibit a narrowing of the airway lumen unlike in Trnau1^tm1Dhat homozygous control mice

tracheomalacia ( J:152152 )

• mice exhibit tracheomalacia

craniofacial

abnormal cranium morphology ( J:152152 )

• rounding of the cranium

small cranium ( J:152152 )

abnormal neurocranium morphology ( J:152152 )

• rounding of the calvaria unlike in Trnau1^tm1Dhat homozygous control mice

abnormal frontal bone morphology ( J:152152 )

• frontal bones are more porous than in Trnau1^tm1Dhat homozygous control mice

frontal bossing ( J:152152 )

abnormal jaw morphology ( J:152152 )

• narrowing of the jaw unlike in Trnau1^tm1Dhat homozygous control mice

abnormal craniofacial development ( J:152152 )

• chondrocranial growth is impaired compared to in Trnau1^tm1Dhat homozygous control mice

short snout ( J:152152 )

outer ear hypoplasia ( J:152152 )

• auricle hypoplasia

limbs/digits/tail

abnormal limb morphology ( J:152152 )

• mice exhibit small knees compared with Trnau1^tm1Dhat homozygous control mice

short limbs ( J:152152 )

short tail ( J:152152 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
connective tissue disease		DOID:65		J:152152