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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Shox2tm1Ddu
targeted mutation 1, Denis Duboule
MGI:3626291
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Shox2tm1Ddu/Shox2tm3.1(cre)Ypc involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6 MGI:5504523
cn2
Shox2tm1Ddu/Shox2tm1.1Ddu
Tg(Prrx1-cre)1Cjt/0
involves: 129S2/SvPas * C57BL/6J * SJL/J MGI:3628806


Genotype
MGI:5504523
cn1
Allelic
Composition
Shox2tm1Ddu/Shox2tm3.1(cre)Ypc
Genetic
Background
involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Shox2tm1Ddu mutation (1 available); any Shox2 mutation (12 available)
Shox2tm3.1(cre)Ypc mutation (0 available); any Shox2 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• lethality is observed beginning at E11.5, increasing as development progresses

cardiovascular system
• the sinoatrial node (SAN) is hypoplastic at E11.5 similar to Shox2tm1Ypc homozygous embryos




Genotype
MGI:3628806
cn2
Allelic
Composition
Shox2tm1Ddu/Shox2tm1.1Ddu
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S2/SvPas * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Shox2tm1.1Ddu mutation (0 available); any Shox2 mutation (12 available)
Shox2tm1Ddu mutation (1 available); any Shox2 mutation (12 available)
Tg(Prrx1-cre)1Cjt mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Limb phenotype of Shox2tm1Ddu/Shox2tm1.1Ddu Tg(Prrx1-cre)1Cjt mice

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

limbs/digits/tail
• development of the forelimb stylopod elements is severely impaired; however development of the forelimb zeugopd elements is similar to wild-type mice
• development of the hindlimb stylopod elements is severely impaired
• the hindlimb zeugopod is also shorter
• virtually absent at birth with only a small abnormal dorsal piece remaining that does not span the axis of the limb
• 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
• markedly bowed

skeleton
• virtually absent at birth with only a small abnormal dorsal piece remaining that does not span the axis of the limb
• 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
• markedly bowed
• hypertrophic chondrocytes eventually appear in the humerus but are in abnormal asymmetric locations blocking formation of the growth plate
• 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





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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory