Phenotypes Associated with This Genotype

Genotype
MGI:3624520

• Allelic Composition: Dnah5^Tg1Htz/Dnah5^Tg1Htz
• Genetic Background: involves: C57BL/6 * CBA/J

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

mortality/aging

postnatal lethality ( J:76189 )

• most die during the first 2-3 weeks of life

respiratory system

immotile respiratory cilia ( J:76189 )

• nasal epithelium cilia are immotile and lack dynein outer arms

sinus inflammation ( J:76189 )

• paranasal sinuses show excess mucus containing numerous white blood cells

respiratory distress ( J:76189 )

nervous system

hydrocephaly ( J:76189 )

• seen as early as 3-5 days after birth and develops to severe enlargement of the lateral ventricles leading to thinning of the cerebral cortex, multiple hemorrhages, and compression of the cerebellum

enlarged lateral ventricles ( J:76189 )

• severe enlargement of the lateral ventricles

thin cerebral cortex ( J:76189 )

• hydroencephalus leads to thinning of the cerebral cortex

cerebellum atrophy ( J:76189 )

• compression and atrophy of the cerebellum

growth/size/body

postnatal growth retardation ( J:76189 )

situs inversus ( J:76189 )

• mutants exhibit either complete (both dextrocardia and reversal of the abdominal organs), partial, or no situs inversus

craniofacial

enlarged cranium ( J:76189 )

• skull is expanded

domed cranium ( J:76189 )

hearing/vestibular/ear

abnormal hearing physiology ( J:76189 )

• fail to respond to noise

increased susceptibility to otitis media ( J:76189 )

• examination of the middle ear shows severe infection in the timpanic cavity

immune system

increased susceptibility to otitis media ( J:76189 )

• examination of the middle ear shows severe infection in the timpanic cavity

sinus inflammation ( J:76189 )

• paranasal sinuses show excess mucus containing numerous white blood cells

behavior/neurological

abnormal gait ( J:76189 )

skeleton

enlarged cranium ( J:76189 )

• skull is expanded

domed cranium ( J:76189 )

cellular

immotile respiratory cilia ( J:76189 )

• nasal epithelium cilia are immotile and lack dynein outer arms

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
otitis media		DOID:10754		J:76189
primary ciliary dyskinesia 3		DOID:0110599	OMIM:608644	J:76189