Phenotypes Associated with This Genotype

Genotype
MGI:3764704

• Allelic Composition: Ripply2^tm1Asas/Ripply2^tm1Asas
• Genetic Background: involves: C57BL/6 * CBA

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

mortality/aging

neonatal lethality, complete penetrance ( J:122747 )

• all mice die shortly after birth without breathing

respiratory system

respiratory failure ( J:122747 )

• fail to breath after birth

embryo

abnormal rostral-caudal patterning of the somites ( J:122747 )

• expression analysis indicates that rostrocaudal polarity is disrupted

caudal body truncation ( J:122747 )

• considerable truncation at E18

incomplete somite formation ( J:122747 )

• at E11.5 segmentation is absent in the caudal portion of homozygous embryos

skeleton

skeleton phenotype ( J:122747 )

N • despite abnormalities in the axial skeleton, limb and skull morphology appear normal and no abnormalities in osteogenesis are detected

decreased rib number ( J:122747 )

• at E18, rib pair number is reduced to 9 compared to 13 pairs in wild-type littermates

rib bifurcation ( J:122747 )

• at E18

rib fusion ( J:122747 )

• at E18

abnormal vertebrae morphology ( J:122747 )

• at E18 the metameric pattern of the vertebral bodies, intervertebral discs and neural arches is severely disrupted

abnormal vertebral pedicle morphology ( J:122747 )

• the pedicles of neural arches are fused or missing at E18

growth/size/body

small thoracic cavity ( J:122747 )

• severely reduced in size at E18

limbs/digits/tail

short tail ( J:122747 )

• visible at E18

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spondylocostal dysostosis		DOID:0050568	OMIM:PS277300	J:122747