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 )

• impeded primary and secondary ossification centers in the long bones

• 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

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