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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Dnaaf5em2Slb
endonuclease-mediated mutation 2, Steven L Brody
MGI:7569249
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Dnaaf5em2Slb/Dnaaf5em2Slb C57BL/6-Dnaaf5em2Slb MGI:7569332
ht2
 		Dnaaf5em1Slb/Dnaaf5em2Slb C57BL/6-Dnaaf5em1Slb Dnaaf5em2Slb MGI:7569328


Genotype
MGI:7569332
hm1
Allelic
Composition		 Dnaaf5em2Slb/Dnaaf5em2Slb
Genetic
Background		 C57BL/6-Dnaaf5em2Slb
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dnaaf5em2Slb mutation (0 available); any Dnaaf5 mutation (48 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
preweaning lethality, complete penetrance ( J:342770 )
• no mice found at weaning stage




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
11/12/2024
MGI 6.24 		The Jackson Laboratory