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Phenotypes Associated with This Genotype
Genotype
MGI:2451173
Allelic
Composition
Sox9tm2Crm/Sox9tm2Crm
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S/SvEv * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox9tm2Crm mutation (1 available); any Sox9 mutation (10 available)
Tg(Prrx1-cre)1Cjt mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most die immediately in postnatal period from respiratory distress (J:79879)
• most die immediately in postnatal period from respiratory distress (J:79879)

limbs/digits/tail
• limb bud development arrested at E13.5 (J:79879)
• limb bud development arrested at E13.5 (J:79879)
• absence of digit development (J:79879)
• absence of digit development (J:79879)

respiratory system
• animals die from respiratory distress (J:79879)
• animals die from respiratory distress (J:79879)

skeleton
• absence of bones in forelimbs and hindlimbs (J:79879)
• absence of bones in forelimbs and hindlimbs (J:79879)
• absence of cartilage in forelimbs and hindlimbs (J:79879)
• absence of cartilage in forelimbs and hindlimbs (J:79879)

embryogenesis
• limb bud development arrested at E13.5 (J:79879)
• limb bud development arrested at E13.5 (J:79879)

cardiovascular system
• at E11.5 - E12.5, vascular patterning in the limbs is abnormal (J:147285)
• at E11.5 the axial artery is absent from the limbs (J:147285)
• at E12.5 metacarpal vascular centers are absent, instead limb vessels form a single wide center that spans the anterior-posterior axis of the limb (J:147285)
• at E12.5 avascular areas fail to develop (J:147285)
• at E11.5 - E12.5, vascular patterning in the limbs is abnormal (J:147285)
• at E11.5 the axial artery is absent from the limbs (J:147285)
• at E12.5 metacarpal vascular centers are absent, instead limb vessels form a single wide center that spans the anterior-posterior axis of the limb (J:147285)
• at E12.5 avascular areas fail to develop (J:147285)

Mouse Models of Human Disease
OMIM ID Ref(s)
Campomelic Dysplasia 114290 J:79879


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory