Phenotypes associated with this allele

• Allele Symbol: Ak9^em1Mdj
• Allele Name: endonuclease-mediated mutation 1, Mark D Johnson
• Allele ID: MGI:7607935
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ak9^em1Mdj/Ak9^em1Mdj	C57BL/6-Ak9^em1Mdj	MGI:7608027
ht2	Ak9^em1Mdj/Ak9^+	C57BL/6-Ak9^em1Mdj	MGI:7608028

Genotype
MGI:7608027

hm1

• Allelic Composition: Ak9^em1Mdj/Ak9^em1Mdj
• Genetic Background: C57BL/6-Ak9^em1Mdj

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

behavior/neurological

impaired balance ( J:344356 )

• shorter latency to fall in rotarod test at age 3 months

cellular

abnormal brain ependyma motile cilium morphology ( J:344356 )

• 12% shorter

• normal 9 + 2 axonemal structure with intact dynein arms

decreased brain ependyma motile cilium length ( J:344356 )

• 12% shorter

abnormal sperm motility ( J:344356 )

♂ • decreased flagellar excursion and severely impaired swimming ability

abnormal brain ependyma motile cilium physiology ( J:344356 )

• 25% lower cilia beat frequency (CBF)

reproductive system

reproductive system phenotype ( J:344356 )

♀N • females are fertile

abnormal sperm motility ( J:344356 )

♂ • decreased flagellar excursion and severely impaired swimming ability

decreased litter size ( J:344356 )

♀

infertility ( J:344356 )

♂ • male infertility

male infertility ( J:344356 )

♂ • infertile

♂ • normal sperm number

♂ • normal sperm flagella morphology

nervous system

nervous system phenotype ( J:344356 )

N • normal cerebral aqueduct

abnormal brain ependyma motile cilium morphology ( J:344356 )

• 12% shorter

• normal 9 + 2 axonemal structure with intact dynein arms

decreased brain ependyma motile cilium length ( J:344356 )

• 12% shorter

abnormal brain ependyma motile cilium physiology ( J:344356 )

• 25% lower cilia beat frequency (CBF)

enlarged brain ventricles ( J:344356 )

• from birth till at least age 9 months; volume 3x that of WT at age 3 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
normal pressure hydrocephalus		DOID:1572	OMIM:236690	J:344356

Genotype
MGI:7608028

ht2

• Allelic Composition: Ak9^em1Mdj/Ak9⁺
• Genetic Background: C57BL/6-Ak9^em1Mdj

nervous system

nervous system phenotype ( J:344356 )

N • normal cerebral aqueduct

abnormal brain ependyma motile cilium physiology ( J:344356 )

• 9% lower cilia beat frequency (CBF)

enlarged brain ventricles ( J:344356 )

• 20% larger volume at age 9 months

• normal at ages P7 and 3 months

cellular

abnormal brain ependyma motile cilium physiology ( J:344356 )

• 9% lower cilia beat frequency (CBF)

behavior/neurological

behavior/neurological phenotype ( J:344356 )

N • normal latency to fall in rotarod test at ages 3 and 9 months

reproductive system

reproductive system phenotype ( J:344356 )

N • fertile