Phenotypes Associated with This Genotype

Genotype
MGI:6272015

• Allelic Composition: Tnni2^tm1Sgao/Tnni2⁺
• Genetic Background: involves: 129 * ICR

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

skeleton

decreased osteoblast proliferation ( J:228857 )

• 2.4-fold compared with wild-type mice

abnormal long bone epiphyseal plate morphology ( J:228857 )

• delayed cartilage ossifications in the ribs, carpus and metacarpus, phalanx, growth plates of the radii and ulna, and tail cartilage at P2, P5, P6, and P10

• impeded primary and secondary ossification centers in the long bones

abnormal long bone hypertrophic chondrocyte zone ( J:228857 )

• failure of vascular canal invasion at P6 in the radii

• absent mineralization of the matrix and hypertrophic chondrocytes at P6 in nasal cartilage

short vertebral column ( J:228857 )

• at P12

decreased osteoblast cell number ( J:228857 )

• surrounding the trabecular bone in the radii and ulnae

decreased trabecular bone mass ( J:228857 )

• in the radii and ulnae

decreased bone mineralization ( J:228857 )

• absent mineralization of the matrix and hypertrophic chondrocytes at P6 in nasal cartilage

growth/size/body

decreased birth weight ( J:228857 )

decreased body size ( J:228857 )

slow postnatal weight gain ( J:228857 )

• from P5 to P20

homeostasis/metabolism

decreased collagen level ( J:228857 )

• reduced type I collagen in the radii and ulnae

cardiovascular system

decreased angiogenesis ( J:228857 )

• failure of vascular canal invasion at P6 in the radii

cellular

decreased osteoblast proliferation ( J:228857 )

• 2.4-fold compared with wild-type mice

limbs/digits/tail

abnormal forelimb morphology ( J:228857 )

• contracture

short forelimb ( J:228857 )

• short at P12

short hindlimb ( J:228857 )

• short at P12

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
distal arthrogryposis		DOID:0050646	OMIM:PS108120	J:228857