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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 (13 available)
Shox2tm3.1(cre)Ypc mutation (0 available); any Shox2 mutation (13 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 (13 available)
Shox2tm1Ddu mutation (1 available); any Shox2 mutation (13 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

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





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last database update
06/13/2017
MGI 6.10
The Jackson Laboratory