Phenotypes associated with this allele

• Allele Symbol: Tnni2^tm1Sgao
• Allele Name: targeted mutation 1, Shaorong Gao
• Allele ID: MGI:6270415
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tnni2^tm1Sgao/Tnni2^tm1Sgao	involves: 129 * ICR	MGI:6272014
ht2	Tnni2^tm1Sgao/Tnni2^+	involves: 129 * ICR	MGI:6272015

Genotype
MGI:6272014

hm1

• 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

Genotype
MGI:6272015

ht2

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

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