Phenotypes associated with this allele

• Allele Symbol: Shox2^tm1Ddu
• Allele Name: targeted mutation 1, Denis Duboule
• Allele ID: MGI:3626291
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Shox2^tm1Ddu/Shox2^tm3.1(cre)Ypc	involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6	MGI:5504523
cn2	Shox2^tm1Ddu/Shox2^tm1.1Ddu Tg(Prrx1-cre)1Cjt/0	involves: 129S2/SvPas * C57BL/6J * SJL/J	MGI:3628806

Genotype
MGI:5504523

cn1

• Allelic Composition: Shox2^tm1Ddu/Shox2^{tm3.1(cre)Ypc}
• Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:199319 )

• no living fetuses are recovered at E14.5

embryonic lethality during organogenesis, incomplete penetrance ( J:199319 )

• lethality is observed beginning at E11.5, increasing as development progresses

cardiovascular system

sinoatrial node hypoplasia ( J:199319 )

• the sinoatrial node (SAN) is hypoplastic at E11.5 similar to Shox2^tm1Ypc homozygous embryos

muscle

sinoatrial node hypoplasia ( J:199319 )

• the sinoatrial node (SAN) is hypoplastic at E11.5 similar to Shox2^tm1Ypc homozygous embryos

Genotype
MGI:3628806

cn2

• Allelic Composition: Shox2^tm1Ddu/Shox2^tm1.1Ddu; Tg(Prrx1-cre)1Cjt/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6J * SJL/J

Limb phenotype of Shox2^tm1Ddu/Shox2^tm1.1Ddu Tg(Prrx1-cre)1Cjt mice

mortality/aging

mortality/aging ( J:107668 )

N • provided adequate access to food and water homozygotes are viable

limbs/digits/tail

abnormal limb morphology ( J:107668 )

abnormal forelimb stylopod morphology ( J:107668 )

• development of the forelimb stylopod elements is severely impaired; however development of the forelimb zeugopd elements is similar to wild-type mice

abnormal hindlimb stylopod morphology ( J:107668 )

• development of the hindlimb stylopod elements is severely impaired

abnormal hindlimb zeugopod morphology ( J:107668 )

• the hindlimb zeugopod is also shorter

abnormal limb bone morphology ( J:107668 )

absent humerus ( J:107668 )

• virtually absent at birth with only a small abnormal dorsal piece remaining that does not span the axis of the limb

absent femur ( J:107668 )

• virtually absent at birth with only a tiny cartilage analage which lacks ossification is seen; in adults ossification is seen but little bone growth occurs

bowed tibia ( J:107668 )

• markedly bowed

short limbs ( J:107668 )

skeleton

abnormal limb bone morphology ( J:107668 )

absent humerus ( J:107668 )

• virtually absent at birth with only a small abnormal dorsal piece remaining that does not span the axis of the limb

absent femur ( J:107668 )

• virtually absent at birth with only a tiny cartilage analage which lacks ossification is seen; in adults ossification is seen but little bone growth occurs

bowed tibia ( J:107668 )

• markedly bowed

abnormal long bone epiphyseal plate morphology ( J:107668 )

• hypertrophic chondrocytes eventually appear in the humerus but are in abnormal asymmetric locations blocking formation of the growth plate

abnormal cartilage development ( J:107668 )

• at E12.5, the humerus and femur cartilages are already significantly shorter (by about 50%) than in wild-type

• by E14.5 the humerus and femur cartilage malformation is as severe as in newborns

• chondrocyte differentiation in the humerus is impaired with markers for immature cells (Col2a1) still present at E18.5 and expression of later markers greatly decreased or absent

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leri-Weill dyschondrosteosis		DOID:0060847	OMIM:127300	J:107668