Phenotypes associated with this allele

• Allele Symbol: Cfap54^{Gt(IST10309B2)Tigm}
• Allele Name: gene trap IST10309B2, Texas A&M Institute for Genomic Medicine
• Allele ID: MGI:3942561
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cfap54^Gt(IST10309B2)Tigm/Cfap54^Gt(IST10309B2)Tigm	129S6.B6N-Cfap54^Gt(IST10309B2)Tigm	MGI:5817449
hm2	Cfap54^Gt(IST10309B2)Tigm/Cfap54^Gt(IST10309B2)Tigm	B6J.B6N-Cfap54^Gt(IST10309B2)Tigm	MGI:5817440
hm3	Cfap54^Gt(IST10309B2)Tigm/Cfap54^Gt(IST10309B2)Tigm	(B6J.B6N-Cfap54^Gt(IST10309B2)Tigm x 129S6.B6N-Cfap54^Gt(IST10309B2)Tigm)F1	MGI:5817456

Genotype
MGI:5817449

hm1

• Allelic Composition: Cfap54^{Gt(IST10309B2)Tigm}/Cfap54^{Gt(IST10309B2)Tigm}
• Genetic Background: 129S6.B6N-Cfap54^{Gt(IST10309B2)Tigm}

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

mortality/aging

mortality/aging ( J:228444 )

N • Background Sensitivity: mice exhibit no signs of early mortality, unlike mice on a B6 background

nervous system

nervous system phenotype ( J:228444 )

N • Background Sensitivity: mice do not develop severe, gross hydrocephalus, unlike mice on a B6 background

dilated lateral ventricle ( J:228444 )

• mice exhibit mild dilatation of the lateral ventricles without substantial secondary tissue damage in the underlying white matter and cerebral cortex

Genotype
MGI:5817440

hm2

• Allelic Composition: Cfap54^{Gt(IST10309B2)Tigm}/Cfap54^{Gt(IST10309B2)Tigm}
• Genetic Background: B6J.B6N-Cfap54^{Gt(IST10309B2)Tigm}

mortality/aging

premature death ( J:228444 )

• Background Sensitivity: 3 of 5 mice died naturally before 5 weeks of age while the remaining 2 mice died at ~7 weeks of age; in contrast, mice generated on a mixed or predominantly 129 background show no signs of early lethality

• all mice were killed by 5 weeks of age due to severe hydrocephalus

craniofacial

domed cranium ( J:228444 )

• mice display an enlarged, dome-shaped head suggestive of hydrocephalus

nervous system

intraventricular hemorrhage ( J:228444 )

• mice exhibit signs of intraventricular bleeding

absent brain ependyma motile cilia ( J:228444 )

• mice show denudation of the ciliated ependymal cells that line the ventricles

abnormal brain ependyma motile cilium physiology ( J:228444 )

• ex vivo, the rate of cilia-driven ink flow over brain ependymal cilia is ~84.0% lower than in wild-type controls

hydrocephaly ( J:228444 )

• Background Sensitivity: mice develop severe, gross hydrocephalus, unlike mice on a mixed or predominantly 129 background

dilated lateral ventricle ( J:228444 )

• at 3-5 weeks of age, mice exhibit severe dilatation of the lateral ventricles, presumably due to accumulation of cerebrospinal fluid

abnormal brain white matter morphology ( J:228444 )

• mice exhibit secondary tissue damage in the underlying white matter

abnormal cerebral cortex morphology ( J:228444 )

• mice exhibit secondary tissue damage in the underlying cerebral cortex

respiratory system

abnormal respiratory motile cilium morphology ( J:228444 )

• although tracheal epithelial cilia are present and organized with a normal 9 + 2 microtubule structure, they lack electron-dense material, indicating a loss of the C1d projection of the central microtubule apparatus that is not observed in wild-type cilia

• loss of the C1d projection prevents association between the central apparatus and the radial spoke at this location

abnormal respiratory motile cilium physiology ( J:228444 )

• tracheal ciliary beat frequency is reduced by ~14.2% relative to that in wild-type controls

• ex vivo, the rate of cilia-driven ink flow over ciliated tracheal epithelia is 46.9% lower than in wild-type controls

abnormal tracheal ciliated epithelium morphology ( J:228444 )

• tracheal epithelial cells show ultrastructural ciliary abnormalities

impaired mucociliary clearance ( J:228444 )

• mice exhibit accumulation of mucus in the sinus cavity, suggesting impaired mucociliary clearance

cellular

absent brain ependyma motile cilia ( J:228444 )

• mice show denudation of the ciliated ependymal cells that line the ventricles

abnormal respiratory motile cilium morphology ( J:228444 )

• although tracheal epithelial cilia are present and organized with a normal 9 + 2 microtubule structure, they lack electron-dense material, indicating a loss of the C1d projection of the central microtubule apparatus that is not observed in wild-type cilia

• loss of the C1d projection prevents association between the central apparatus and the radial spoke at this location

abnormal brain ependyma motile cilium physiology ( J:228444 )

• ex vivo, the rate of cilia-driven ink flow over brain ependymal cilia is ~84.0% lower than in wild-type controls

abnormal respiratory motile cilium physiology ( J:228444 )

• tracheal ciliary beat frequency is reduced by ~14.2% relative to that in wild-type controls

• ex vivo, the rate of cilia-driven ink flow over ciliated tracheal epithelia is 46.9% lower than in wild-type controls

cardiovascular system

intraventricular hemorrhage ( J:228444 )

• mice exhibit signs of intraventricular bleeding

skeleton

domed cranium ( J:228444 )

• mice display an enlarged, dome-shaped head suggestive of hydrocephalus

Genotype
MGI:5817456

hm3

• Allelic Composition: Cfap54^{Gt(IST10309B2)Tigm}/Cfap54^{Gt(IST10309B2)Tigm}
• Genetic Background: (B6J.B6N-Cfap54^{Gt(IST10309B2)Tigm} x 129S6.B6N-Cfap54^{Gt(IST10309B2)Tigm})F1

mortality/aging

mortality/aging ( J:228444 )

N • Background Sensitivity: mice exhibit no signs of early mortality, unlike mice on a B6 background

nervous system

nervous system phenotype ( J:228444 )

N • Background Sensitivity: mice do not develop severe, gross hydrocephalus, unlike mice on a B6 background

abnormal brain ependyma motile cilium physiology ( J:228444 )

• ex vivo, the rate of cilia-driven ink flow over brain ependymal cilia is ~84.0% lower than in wild-type controls

dilated lateral ventricle ( J:228444 )

• at 8 weeks of age or later, mice exhibit mild dilatation of the lateral ventricles without substantial secondary tissue damage in the underlying white matter and cerebral cortex

reproductive system

abnormal sperm axoneme morphology ( J:228444 )

♂ • when present, sperm flagella appear highly disorganized with axonemal structures largely absent

absent sperm flagellum ( J:228444 )

♂ • mature sperm flagella are rarely detected

short sperm flagellum ( J:228444 )

♂ • epididymal sperm have markedly shortened tails

oligozoospermia ( J:228444 )

♂ • epididymal sperm have markedly shortened tails

abnormal spermatid morphology ( J:228444 )

♂ • mice show severe defects in spermatid flagellar formation during spermiogenesis

abnormal spermiogenesis ( J:228444 )

♂ • elongating spermatids exhibit an absence of flagella extending into the lumen of the seminiferous tubule

♂ • only occasional flagellar remnants are observed, suggesting that spermatogenesis is aborted early in spermiogenesis

♂ • no obvious defects are detected in spermatogonia or spermatocytes

male infertility ( J:228444 )

♂ • males are infertile

respiratory system

abnormal respiratory motile cilium morphology ( J:228444 )

• although tracheal epithelial cilia are present and organized with a normal 9 + 2 microtubule structure, they lack electron-dense material, indicating a loss of the C1d projection of the central microtubule apparatus that is not observed in wild-type cilia

• loss of the C1d projection prevents association between the central apparatus and the radial spoke at this location

abnormal respiratory motile cilium physiology ( J:228444 )

• tracheal ciliary beat frequency is reduced by ~14.2% relative to that in wild-type controls

• ex vivo, the rate of cilia-driven ink flow over ciliated tracheal epithelia is 46.9% lower than in wild-type controls

abnormal tracheal ciliated epithelium morphology ( J:228444 )

• tracheal epithelial cells show ultrastructural ciliary abnormalities

impaired mucociliary clearance ( J:228444 )

• mice exhibit accumulation of mucus in the sinus cavity, suggesting impaired mucociliary clearance

cellular

abnormal respiratory motile cilium morphology ( J:228444 )

• although tracheal epithelial cilia are present and organized with a normal 9 + 2 microtubule structure, they lack electron-dense material, indicating a loss of the C1d projection of the central microtubule apparatus that is not observed in wild-type cilia

• loss of the C1d projection prevents association between the central apparatus and the radial spoke at this location

abnormal sperm axoneme morphology ( J:228444 )

♂ • when present, sperm flagella appear highly disorganized with axonemal structures largely absent

absent sperm flagellum ( J:228444 )

♂ • mature sperm flagella are rarely detected

short sperm flagellum ( J:228444 )

♂ • epididymal sperm have markedly shortened tails

oligozoospermia ( J:228444 )

♂ • epididymal sperm have markedly shortened tails

abnormal spermatid morphology ( J:228444 )

♂ • mice show severe defects in spermatid flagellar formation during spermiogenesis

abnormal brain ependyma motile cilium physiology ( J:228444 )

• ex vivo, the rate of cilia-driven ink flow over brain ependymal cilia is ~84.0% lower than in wild-type controls

abnormal respiratory motile cilium physiology ( J:228444 )

• tracheal ciliary beat frequency is reduced by ~14.2% relative to that in wild-type controls

• ex vivo, the rate of cilia-driven ink flow over ciliated tracheal epithelia is 46.9% lower than in wild-type controls