Phenotypes Associated with This Genotype

Genotype
MGI:6272014

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

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:228857 )

• nearly all mice die within hours of birth with few surviving to weaning

skeleton

short humerus ( J:228857 )

• at E14.75 with shortened primary centers of ossification

short radius ( J:228857 )

• at E14.75 with shortened primary centers of ossification

short ulna ( J:228857 )

• at E14.75 with shortened primary centers of ossification

small scapula ( J:228857 )

• at E14.75 with shortened primary centers of ossification

abnormal epiphyseal plate morphology ( J:228857 )

• reduced recruitment of blood vessels into the cartilage plate of the radii and ulnae at E15.5

decreased width of hypertrophic chondrocyte zone ( J:228857 )

decreased bone mineralization ( J:228857 )

• of the cranium at E16.5, P2 and P5

• reduced matrix mineralization in the radii at P1

delayed endochondral bone ossification ( J:228857 )

abnormal intramembranous bone ossification ( J:228857 )

• reduced cranium mineralization at E16.5, P2 and P5

growth/size/body

decreased birth weight ( J:228857 )

decreased body size ( J:228857 )

limbs/digits/tail

abnormal forelimb morphology ( J:228857 )

• contracture

short humerus ( J:228857 )

• at E14.75 with shortened primary centers of ossification

short radius ( J:228857 )

• at E14.75 with shortened primary centers of ossification

short ulna ( J:228857 )

• at E14.75 with shortened primary centers of ossification

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