Phenotypes associated with this allele

• Allele Symbol: Tubb4b^em2Golab
• Allele Name: endonuclease-mediated mutation 2, Genetic in Ophtalmology Laboratory
• Allele ID: MGI:8249372
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tubb4b^em2Golab/Tubb4b^em2Golab	involves: C57BL/6J * CD-1	MGI:8250274

Genotype
MGI:8250274

hm1

• Allelic Composition: Tubb4b^em2Golab/Tubb4b^em2Golab
• Genetic Background: involves: C57BL/6J * CD-1

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

cellular

abnormal motile cilium morphology ( J:360308 )

• choroid plexus multicilia are disrupted, with a reduction in cilia number and length

• however, cilia in primary fibroblasts show normal numbers and lengths and ependymal cells exhibit normal cilia numbers and lengths, with no difference in ciliary beat patterns or frequency

abnormal oviduct epithelium motile cilium morphology ( J:360308 )

• defects in oviduct multiciliated cells which exhibit reduced cilia lengths

abnormal respiratory motile cilium morphology ( J:360308 )

• decrease in number and length of tracheal cilia

• tracheal cilia show reduced number of and misformed centrioles, nondocked centrioles without axonemes and partial centrioles, however some fully formed basal bodies manage to dock and extend rare, stumpy axonemes

• tracheal cilia show diverse axonemal microtubule defects, including the loss or duplication of central pairs, loss of microtubule doublets, and microtubule disorganization arising at or just proximal to the transition zone

growth/size/body

postnatal growth retardation ( J:360308 )

• mice show postnatal runting starting from P2

mortality/aging

postnatal lethality, incomplete penetrance ( J:360308 )

nervous system

non-obstructive hydrocephaly ( J:360308 )

• mice show pronounced and progressive dilatations of the ventricles neonatally without obstruction of aqueducts suggesting communicating hydrocephalus

• however motile cilia on ependymal cells exhibit grossly normal lengths and densities

abnormal choroid plexus morphology ( J:360308 )

• choroid plexus multicilia are disrupted

reproductive system

abnormal oviduct epithelium motile cilium morphology ( J:360308 )

• defects in oviduct multiciliated cells which exhibit reduced cilia lengths

abnormal spermatogenesis ( J:360308 )

♂ • defects in surviving male spermatogenesis

respiratory system

abnormal respiratory motile cilium morphology ( J:360308 )

• decrease in number and length of tracheal cilia

• tracheal cilia show reduced number of and misformed centrioles, nondocked centrioles without axonemes and partial centrioles, however some fully formed basal bodies manage to dock and extend rare, stumpy axonemes

• tracheal cilia show diverse axonemal microtubule defects, including the loss or duplication of central pairs, loss of microtubule doublets, and microtubule disorganization arising at or just proximal to the transition zone

skeleton

skeleton phenotype ( J:360308 )

N • neonates exhibit lack of overt skeletal or growth phenotypes at birth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary ciliary dyskinesia		DOID:9562	OMIM:PS244400	J:360308