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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Dnaaf5em1Slb
endonuclease-mediated mutation 1, Steven L Brody
MGI:7569243
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Dnaaf5em1Slb/Dnaaf5em1Slb C57BL/6-Dnaaf5em1Slb MGI:7569326
ht2
 		Dnaaf5em1Slb/Dnaaf5em2Slb C57BL/6-Dnaaf5em1Slb Dnaaf5em2Slb MGI:7569328


Genotype
MGI:7569326
hm1
Allelic
Composition		 Dnaaf5em1Slb/Dnaaf5em1Slb
Genetic
Background		 C57BL/6-Dnaaf5em1Slb
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dnaaf5em1Slb mutation (0 available); any Dnaaf5 mutation (48 available)
♀ 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
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

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

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

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




Genotype
MGI:7569328
ht2
Allelic
Composition		 Dnaaf5em1Slb/Dnaaf5em2Slb
Genetic
Background		 C57BL/6-Dnaaf5em1Slb Dnaaf5em2Slb
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dnaaf5em1Slb mutation (0 available); any Dnaaf5 mutation (48 available)
Dnaaf5em2Slb mutation (0 available); any Dnaaf5 mutation (48 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
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

growth/size/body
megacephaly ( J:342770 )
• from age 3 weeks
decreased body size ( J:342770 )

immune system

mortality/aging
premature death ( J:342770 )
• 50% die by age 30 days; no survival beyond 90 days
prenatal lethality, incomplete penetrance ( J:342770 )
• born at lower-than-expected Mendelian ratio

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
non-obstructive hydrocephaly ( J:342770 )
• in all mice by age 12 weeks

respiratory system
respiratory system phenotype ( J:342770 )
• 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




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
05/07/2024
MGI 6.23 		The Jackson Laboratory