Phenotypes Associated with This Genotype

Genotype
MGI:5547595

• Allelic Composition: Dnaaf4^tm1.2Jjlo/Dnaaf4^tm1.2Jjlo
• Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6J

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

mortality/aging

postnatal lethality, complete penetrance ( J:205312 )

• mice die by P12

prenatal lethality, incomplete penetrance ( J:205312 )

• despite being present at normal Mendelian ratios at E6.5 to E12, fewer than expected mice are born

growth/size/body

right-sided stomach ( J:205312 )

• in some mice

lung situs inversus ( J:205312 )

• in some mice

situs ambiguus ( J:205312 )

• in 15 of 87 mice

situs inversus totalis ( J:205312 )

• in 51 of 87 mice

• however, 21 of 87 mice exhibit situs solitus

cardiovascular system

dextrocardia ( J:205312 )

• in some mice

nervous system

abnormal brain ependyma motile cilium physiology ( J:205312 )

• immotile cilia

hydrocephaly ( J:205312 )

• severe by P16

respiratory system

abnormal respiratory motile cilium physiology ( J:205312 )

• severe ciliary motility defect

lung situs inversus ( J:205312 )

• in some mice

skeleton

domed cranium ( J:205312 )

• at P16

craniofacial

domed cranium ( J:205312 )

• at P16

digestive/alimentary system

right-sided stomach ( J:205312 )

• in some mice

hematopoietic system

abnormal spleen morphology ( J:205312 )

• inverted in some mice

immune system

abnormal spleen morphology ( J:205312 )

• inverted in some mice

cellular

abnormal brain ependyma motile cilium physiology ( J:205312 )

• immotile cilia

abnormal respiratory motile cilium physiology ( J:205312 )

• severe ciliary motility defect

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary ciliary dyskinesia 25		DOID:0110615	OMIM:615482	J:205312