Analysis Tools
mortality/aging
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• a number of mice have to be culled in the first months of life due to hydrocephaly
• however, less severely affected mice live up to 16 months with no incident
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growth/size/body
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• at E18.5, the nasal mucosa shows abundant PAS-positive materials that accumulate in the apical borders of almost every columnar epithelial cell and lacks typical goblet cells, unlike in wild-type embryos where PAS-positive goblet cells are interspersed between multiciliated cells
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• body weight is significantly reduced from P30 to P120
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• mice are growth impaired
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nervous system
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• periventricular malacia and hippocampal atrophy are observed
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• absence of cilia in ependymal cells (choroid plexus) at 2 months of age, consistent with the development of hydrocephaly
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hydrocephaly
(
J:231675
)
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• ~97% mice exhibit symmetrical hydrocephaly
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reproductive system
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• oviducts are completely devoid of multiciliated cells at 3 weeks of age
• only sporadic, punctate gamma-tubulin staining likely representing individual centrosomes (basal bodies) with total absence of acetylated alpha-tubulin staining indicating lack of cilia
• no detectable FOXJ1 or RFX3 staining suggesting impaired differentiation of multiciliated cells in the oviduct
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• few primordial follicles are observed in the ovaries at 6 weeks of age
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• few secondary follicles are observed in the ovaries at 6 weeks of age
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• degenerated antral follicles with high levels of cell death at 6 weeks of age
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small ovary
(
J:231675
)
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• smaller ovaries at 6 weeks of age
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• degenerated antral follicles with high levels of cell death at 6 weeks of age
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• markedly reduced cellularity in tubule sections and some cell death at 6 weeks of age
• however, testis size is normal at 2 months of age
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• smaller oviducts at 3 weeks of age
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• thinning of the spermatogenic cell layer and decreased numbers of elongated spermatids at 6 weeks of age
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azoospermia
(
J:231675
)
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• sperm counts from the cauda epididymis indicate absence of sperm
• absence of luminal spermatozoa in caput epididymis
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• reduced numbers of elongated spermatids at 6 weeks of age
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• females are infertile
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• males are infertile
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respiratory system
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• a flat columnar to squamous, non-ciliated epithelium is observed in both the nasal and tracheal mucosa at E17.5 and E18.5, unlike the pseudostratified columnar ciliated epithelium observed in wild-type controls
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• no cilia are identified by acetylated alpha-tubulin staining in the nasal and tracheal mucosa at E17.5 and E18.5
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• at E18.5, the nasal mucosa shows abundant PAS-positive materials that accumulate in the apical borders of almost every columnar epithelial cell and lacks typical goblet cells, unlike in wild-type embryos where PAS-positive goblet cells are interspersed between multiciliated cells
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• increased number of PAS-positive secretory cells in the nasal mucosa at E17.5 and in the laryngeo-tracheal mucosa at E18.5
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• TEM analysis indicates absence of multiciliated cells in adult tracheas; only secretory-like cells with microvilli at the apical surface are observed, with no evidence of basal body expansion
• absence of multiciliated cells is confirmed by lack of acetylated alpha-tubulin and RFX3 staining in the trachea at 1 month of age
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endocrine/exocrine glands
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• few primordial follicles are observed in the ovaries at 6 weeks of age
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• few secondary follicles are observed in the ovaries at 6 weeks of age
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• degenerated antral follicles with high levels of cell death at 6 weeks of age
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small ovary
(
J:231675
)
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• smaller ovaries at 6 weeks of age
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• degenerated antral follicles with high levels of cell death at 6 weeks of age
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• markedly reduced cellularity in tubule sections and some cell death at 6 weeks of age
• however, testis size is normal at 2 months of age
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craniofacial
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• at E18.5, the nasal mucosa shows abundant PAS-positive materials that accumulate in the apical borders of almost every columnar epithelial cell and lacks typical goblet cells, unlike in wild-type embryos where PAS-positive goblet cells are interspersed between multiciliated cells
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cellular
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• severely impaired multiciliated cell development in the brain, respiratory system, and reproductive tract of embryos and adult mice
• highly reduced expression levels of many genes linked to deuterosomemediated centriole expansion and cilia development in the trachea and oviduct
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• absence of cilia in ependymal cells (choroid plexus) at 2 months of age, consistent with the development of hydrocephaly
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• oviducts are completely devoid of multiciliated cells at 3 weeks of age
• only sporadic, punctate gamma-tubulin staining likely representing individual centrosomes (basal bodies) with total absence of acetylated alpha-tubulin staining indicating lack of cilia
• no detectable FOXJ1 or RFX3 staining suggesting impaired differentiation of multiciliated cells in the oviduct
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• no cilia are identified by acetylated alpha-tubulin staining in the nasal and tracheal mucosa at E17.5 and E18.5
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azoospermia
(
J:231675
)
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• sperm counts from the cauda epididymis indicate absence of sperm
• absence of luminal spermatozoa in caput epididymis
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• reduced numbers of elongated spermatids at 6 weeks of age
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• degenerated antral follicles with high levels of cell death at 6 weeks of age
• markedly reduced cellularity in seminiferous tubule sections and some cell death at 6 weeks of age
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