Phenotypes Associated with This Genotype

Genotype
MGI:2451173

• Allelic Composition: Sox9^tm2Crm/Sox9^tm2Crm; Tg(Prrx1-cre)1Cjt/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * SJL/J

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:79879 )

• most die immediately in postnatal period from respiratory distress

limbs/digits/tail

abnormal limb bud morphology ( J:79879 )

• limb bud development arrested at E13.5

adactyly ( J:79879 )

• absence of digit development

respiratory system

respiratory distress ( J:79879 )

• animals die from respiratory distress

skeleton

abnormal long bone morphology ( J:79879 )

• absence of bones in forelimbs and hindlimbs

absent sternum ( J:79879 )

absent cartilage ( J:79879 )

• absence of cartilage in forelimbs and hindlimbs

embryo

abnormal limb bud morphology ( J:79879 )

• limb bud development arrested at E13.5

cardiovascular system

abnormal angiogenesis ( J:147285 )

• at E11.5 - E12.5, vascular patterning in the limbs is abnormal

• at E11.5 the axial artery is absent from the limbs

• 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

• at E12.5 avascular areas fail to develop

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
campomelic dysplasia		DOID:0050463	OMIM:114290	J:79879