Phenotypes associated with this allele

• Allele Symbol: Dnaaf11^tm1.2Hmd
• Allele Name: targeted mutation 1.2, Hiroshi Hamada
• Allele ID: MGI:6147714
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dnaaf11^tm1.2Hmd/Dnaaf11^tm1.2Hmd	involves: 129S6/SvEvTac * C57BL/6NCrl	MGI:6285740

Genotype
MGI:6285740

hm1

• Allelic Composition: Dnaaf11^tm1.2Hmd/Dnaaf11^tm1.2Hmd
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6NCrl

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

mortality/aging

premature death ( J:258369 )

• all mice eventually died within 5 weeks of birth

prenatal lethality, incomplete penetrance ( J:258369 )

• although mice were detected at the expected frequency at E8.0, approximately 60% died in utero

embryo

abnormal motile primary cilium physiology ( J:258369 )

• node cilia were completely immotile

abnormal left-right axis patterning ( J:258369 )

• neonates exhibited laterality defects with variable severities

• at E8.0, Nodal expression was randomized such that it was found either on the left (3 of 9 embryos), right (1 of 9) or both (2 of 9) side(s) of the lateral plate mesoderm or was absent (3 of 9)

growth/size/body

right-sided stomach ( J:258369 )

• 3 of 6 mice had the stomach on the right side

nervous system

abnormal brain ependyma motile cilium physiology ( J:258369 )

• brain ependymal cilia were immotile

abnormal brain morphology ( J:258369 )

• at 3 weeks of age, brains showed significant deformation with collapsed cortices

hydrocephaly ( J:258369 )

• all (6 of 6) surviving neonates developed hydrocephalus at 3 weeks after birth

cardiovascular system

right aortic arch ( J:258369 )

• 2 of 6 mice had the aortic arch on the right side

abnormal azygos vein topology ( J:258369 )

• 2 of 6 mice had the azygos vein on the right side

abnormal vena cava morphology ( J:258369 )

• 1 of 6 mice had the vena cava located to the left of the aorta

dextrocardia ( J:258369 )

• 1 of 6 mice had the heart apex on the right side

respiratory system

abnormal respiratory motile cilium morphology ( J:258369 )

• trachea cilia showed a normal 9 + 2 configuration of the microtubules but lacked outer dynein arms (ODAs) in the axoneme

• ODA proteins DNAH5, DNAH9 and DNAIC2 were absent from the cilia of airway cells and remained in the cytoplasm without being transported to the ciliary axoneme

immotile respiratory cilia ( J:258369 )

• cilia of trachea epithelial cells were immotile

abnormal lung lobe morphology ( J:258369 )

• 2 of 6 mice showed reversed lung lobation

cellular

abnormal respiratory motile cilium morphology ( J:258369 )

• trachea cilia showed a normal 9 + 2 configuration of the microtubules but lacked outer dynein arms (ODAs) in the axoneme

• ODA proteins DNAH5, DNAH9 and DNAIC2 were absent from the cilia of airway cells and remained in the cytoplasm without being transported to the ciliary axoneme

abnormal brain ependyma motile cilium physiology ( J:258369 )

• brain ependymal cilia were immotile

abnormal motile primary cilium physiology ( J:258369 )

• node cilia were completely immotile

immotile respiratory cilia ( J:258369 )

• cilia of trachea epithelial cells were immotile

craniofacial

domed cranium ( J:258369 )

• at 3 weeks of age, mice exhibited domed crown heads

liver/biliary system

abnormal liver morphology ( J:258369 )

• 6 of 6 mice exhibited abnormal liver lobation

digestive/alimentary system

right-sided stomach ( J:258369 )

• 3 of 6 mice had the stomach on the right side

skeleton

domed cranium ( J:258369 )

• at 3 weeks of age, mice exhibited domed crown heads

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary ciliary dyskinesia 19		DOID:0110608	OMIM:614935	J:258369