Phenotypes Associated with This Genotype

Genotype
MGI:3045840

• Allelic Composition: Rfx3^tm1.1Wrth/Rfx3^tm1.1Wrth
• Genetic Background: involves: 129 * C57BL/6J

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:89880 )

• two thirds of those that survive past E12 die at birth

embryonic lethality during organogenesis, incomplete penetrance ( J:89880 )

• half of the homozygous mutant embryos die around E11 - E12

cardiovascular system

abnormal direction of heart looping ( J:89880 )

• at E10.5 inversion of cardiac looping is seen in 19% of mutant embryos

dextrocardia ( J:89880 )

• at E18, 6 out of 10 mutant embryos had meso- or dextrocardia

mesocardia ( J:89880 )

• at E18, 6 out of 10 mutant embryos had meso- or dextrocardia

embryo

abnormal motile primary cilium morphology ( J:89880 )

• from E7.25 to E8.0 growth of nodal cilia is significantly delayed resulting in significantly shorter cilia in homozygous embryos

abnormal direction of embryo turning ( J:89880 )

• at E10.5 inversion of embryo turning is seen in 19% of mutant embryos

abnormal left-right axis patterning ( J:89880 )

• markers that are normally expressed only on the left side are expressed on both sides

growth/size/body

decreased birth body size ( J:89880 )

• mutants are about two thirds the size of wild-type littermates at birth

postnatal growth retardation ( J:89880 )

• growth retardation increases as the mutant mice age with adults body weight being about half that of control littermates

situs inversus ( J:89880 )

• 6% of those mutants that survive past birth have situs inversus

• at E18, 6% of mutant embryos had situs inversus and 29% had incomplete inversion defects

cellular

abnormal motile primary cilium morphology ( J:89880 )

• from E7.25 to E8.0 growth of nodal cilia is significantly delayed resulting in significantly shorter cilia in homozygous embryos