Phenotypes associated with this allele

• Allele Symbol: Zmynd10^{tm1(KOMP)Wtsi}
• Allele Name: targeted mutation 1, Wellcome Trust Sanger Institute
• Allele ID: MGI:4419323
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Zmynd10^tm1(KOMP)Wtsi/Zmynd10^tm1(KOMP)Wtsi	involves: C57BL/6J * C57BL/6N	MGI:6163475

Genotype
MGI:6163475

hm1

• Allelic Composition: Zmynd10^{tm1(KOMP)Wtsi}/Zmynd10^{tm1(KOMP)Wtsi}
• Genetic Background: involves: C57BL/6J * C57BL/6N
• Cell Lines: EPD0408_5_D08

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

mortality/aging

premature death ( J:261915 )

• all mice eventually die within 1 month of birth

postnatal lethality, incomplete penetrance ( J:261915 )

• mice are born at normal Mendelian ratios but show a mean survival of 14 days

growth/size/body

abnormal head morphology ( J:261915 )

• all mice exhibit typical head deformation resulting from severe hydrocephalus

decreased body size ( J:261915 )

• mice are visibly smaller at P10

decreased body weight ( J:261915 )

• at P10

postnatal growth retardation ( J:261915 )

heterotaxia ( J:261915 )

• 42% of mice show laterality defects, including reversal of the heart apex, stomach, liver, or spleen

situs inversus ( J:261915 )

• mice show situs inversus, consistent with randomization of left-right body asymmetry

nervous system

abnormal brain ependyma motile cilium morphology ( J:261915 )

• at P16, brain ventricle motile cilia lack both outer dynein arm (ODA) and inner dynein arm (IDA) structures

• however, the numbers of brain ventricle motile cilia and basal bodies are normal

abnormal brain ependyma motile cilium physiology ( J:261915 )

• at P16, lack of axonemal outer dynein arm (ODA) and inner dynein arm (IDA) structures results in a loss of ciliary motility and beating in the brain ventricles

hydrocephaly ( J:261915 )

• all mice develop hydrocephaly

dilated brain ventricle ( J:261915 )

• cerebral ventricles are dilated

thin cerebral cortex ( J:261915 )

• all mice exhibit reduced cortical thickness

respiratory system

abnormal respiratory motile cilium morphology ( J:261915 )

• although tracheal cilia show a typical 9+2 microtubular structure, ciliary axonemes lack both outer dynein arm (ODA) and inner dynein arm (IDA) structures, normally present in the peripheral microtubules

• however, the average number and morphology of tracheal cilia and basal bodies is normal

pulmonary edema ( J:261915 )

• in some mice at P29

lung inflammation ( J:261915 )

• some mice surviving past P25 display severe lung inflammation, as shown by loss of alveolar architecture, thickening of alveolar septae, collapse of the alveolar space, and infiltration of inflammatory cells and fibroblasts

• however, fibrosis is absent at >P25 and no lung inflammation is seen in mice that die prior to P20

abnormal lung interstitium morphology ( J:261915 )

• at P29, lungs show significant interstitial widening due to inflammatory infiltrates and edema

abnormal pulmonary alveolus morphology ( J:261915 )

• loss of alveolar architecture, thickening of alveolar septae, and collapse of the alveolar space in some mice surviving past P25

thick pulmonary interalveolar septum ( J:261915 )

• in some mice surviving past P25

abnormal tracheal ciliated epithelium morphology ( J:261915 )

• at P14, some regions of the tracheal epithelium are surrounded by cellular debris and mucus

• in cultured mouse tracheal epithelial cells, the ODA intermediate chain protein DNAI2 is significantly decreased and fails to co-localize with acetylated alpha-tubulin, suggesting that motile cilia lack ODAs

impaired mucociliary clearance ( J:261915 )

• Alcian Blue staining of the paranasal cavities revealed mucus congestion along the nasal epithelium, suggesting impaired mucociliary clearance

cellular

abnormal brain ependyma motile cilium morphology ( J:261915 )

• at P16, brain ventricle motile cilia lack both outer dynein arm (ODA) and inner dynein arm (IDA) structures

• however, the numbers of brain ventricle motile cilia and basal bodies are normal

abnormal respiratory motile cilium morphology ( J:261915 )

• although tracheal cilia show a typical 9+2 microtubular structure, ciliary axonemes lack both outer dynein arm (ODA) and inner dynein arm (IDA) structures, normally present in the peripheral microtubules

• however, the average number and morphology of tracheal cilia and basal bodies is normal

abnormal brain ependyma motile cilium physiology ( J:261915 )

• at P16, lack of axonemal outer dynein arm (ODA) and inner dynein arm (IDA) structures results in a loss of ciliary motility and beating in the brain ventricles

immune system

lung inflammation ( J:261915 )

• some mice surviving past P25 display severe lung inflammation, as shown by loss of alveolar architecture, thickening of alveolar septae, collapse of the alveolar space, and infiltration of inflammatory cells and fibroblasts

• however, fibrosis is absent at >P25 and no lung inflammation is seen in mice that die prior to P20

homeostasis/metabolism

pulmonary edema ( J:261915 )

• in some mice at P29

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary ciliary dyskinesia 22		DOID:0110597	OMIM:615444	J:261915