Phenotypes Associated with This Genotype

Genotype
MGI:7569326

• Allelic Composition: Dnaaf5^em1Slb/Dnaaf5^em1Slb
• Genetic Background: C57BL/6-Dnaaf5^em1Slb

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

cellular

cellular phenotype ( J:342770 )

♀N • normal fallopian tube cilia motility

abnormal brain ependyma motile cilium morphology ( J:342770 )

• smaller inner dynein arm (IDA) cross-section

• absent inner dynein arms (IDAs) and outer dynein arms (ODAs) in many cilia

• truncated inner dynein arms (IDAs) and outer dynein arms (ODAs) in many cilia

abnormal respiratory motile cilium morphology ( J:342770 )

• smaller inner dynein arm (IDA) cross-section

• absent inner dynein arms (IDAs) and outer dynein arms (ODAs) in many cilia

• truncated inner dynein arms (IDAs) and outer dynein arms (ODAs) in many cilia

immotile sperm ( J:342770 )

♂

abnormal brain ependyma motile cilium physiology ( J:342770 )

• decreased lateral ventricle cilia bead transport

abnormal respiratory motile cilium physiology ( J:342770 )

• reduced cilia beat frequency (CBF) and decreased tracheal bead transport

immotile respiratory cilia ( J:342770 )

• majority of cilia

embryo

embryo phenotype ( J:342770 )

N • born at normal Mendelian ratios

growth/size/body

megacephaly ( J:342770 )

• from age 3 weeks

heterotaxia ( J:342770 )

situs inversus ( J:342770 )

immune system

sinus inflammation ( J:342770 )

mortality/aging

premature death ( J:342770 )

• 50% of mice die from hydrocephaly

• mice not affected by hydrocephaly survive for at least 150 days to a year

nervous system

abnormal brain ependyma motile cilium morphology ( J:342770 )

• smaller inner dynein arm (IDA) cross-section

• absent inner dynein arms (IDAs) and outer dynein arms (ODAs) in many cilia

• truncated inner dynein arms (IDAs) and outer dynein arms (ODAs) in many cilia

abnormal brain ependyma motile cilium physiology ( J:342770 )

• decreased lateral ventricle cilia bead transport

non-obstructive hydrocephaly ( J:342770 )

• in 50% of mice by age 12 weeks

enlarged brain ventricles ( J:342770 )

• larger lateral and 3rd ventricles from age 3 weeks

• normal lateral brain ventricle size at age P3

• normal 4th ventricle size at age 3 weeks

reproductive system

reproductive system phenotype ( J:342770 )

♀N • fertile

immotile sperm ( J:342770 )

♂

male infertility ( J:342770 )

♂

respiratory system

respiratory system phenotype ( J:342770 )

N • no lung inflammation

abnormal respiratory motile cilium morphology ( J:342770 )

• smaller inner dynein arm (IDA) cross-section

• absent inner dynein arms (IDAs) and outer dynein arms (ODAs) in many cilia

• truncated inner dynein arms (IDAs) and outer dynein arms (ODAs) in many cilia

abnormal respiratory motile cilium physiology ( J:342770 )

• reduced cilia beat frequency (CBF) and decreased tracheal bead transport

immotile respiratory cilia ( J:342770 )

• majority of cilia

sinus inflammation ( J:342770 )

skeleton

lordokyphosis ( J:342770 )

• cervical spine lordosis with thoraco-lumbar kyphosis in mice with hydrocephaly or mild ventricular enlargement

• no skeletal deformity

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
male infertility		DOID:12336		J:342770
primary ciliary dyskinesia		DOID:9562	OMIM:PS244400	J:342770