Analysis Tools
reproductive system
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• female mice exhibit delayed puberty
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• vaginal opening is significantly delayed and occurs an average of 5 days later than in wild-type females (P32 versus P27)
• however, vaginal opening occurs at a body size of ~15 gm, similar to wild-type females
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• female mice never achieve cyclicity and exhibit highly erratic estrus cycles, with no apparent pattern of timing or duration of cycle stages
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• female mice achieve first estrus on P43, that is, 10 days later than wild-type females (P33)
• females have first estrus at a body size of ~15 gm, whereas wild-type females have first estrus at ~18 gm
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taste/olfaction
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• 10% decrease in the number of basal cells
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• cilia markers are consistently patchy indicating regional decreases in cilia components
• patchy distribution is confirmed by SEM
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• the normal arrangement in parallel stacked columns in the epithelium is lost
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• 30% reduction in number
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• E10.5 embryos show a 49% reduction in phospho-histone H3-positive proliferating cells in the olfactory placode relative to wild-type controls
• embryos exhibit a significant reduction in TUNEL-positive cells in the nasal region relative to wild-type embryos at E10.5 (-21%), E11.5 (-11%) and E12.5 (-13%]
• expression levels of Otx2, Bmp4 and Fgfr1 (involved in proliferation and/or neurogenesis) are significantly decreased in the olfactory placode at E10.5
• however, the size of the E10.5 olfactory placode is normal and invagination of the olfactory placode to form the olfactory pit appears unaffected
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• 50% reduction in proliferating basal cells in adults
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• 4 and 8 weeks after chemical ablation neuronal regeneration is impaired or delayed
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• little to no response to 6 different odorants (amyl acetate, octanal, haptaldehyde, hexanal, eugenol, and carvone) tested by electro-olfactogram
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nervous system
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• GnRH neurogenesis is impaired resulting in reduced GnRH neurons in embryos and adult mice
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• the normal arrangement in parallel stacked columns in the epithelium is lost
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• 30% reduction in number
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• adult male and female mice show, respectively, a 51% and 54% reduction in anti-GnRH immunofluorescence in the median eminence
• however, immunofluorescence of arginine vasopressin (AVP)-positive fibers in the median eminence is normal
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• expression levels of Gnrhr (gonadotropin releasing hormone receptor) are significantly reduced in the adult pituitary gland
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• decreased length
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• decreased length
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• decreased length but not width
• however, intact OMP-positive olfactory bulb glomeruli are present
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• both adult male and female mice show a 35% reduction in the total number of GnRH-positive neuron cell bodies in the hypothalamus relative to wild-type controls
• embryos show a 30% reduction in the total number of GnRH-positive neurons in the nasal region at E11.5 and E12.5, consistent with fewer GnRH neurons in the adult hypothalamus
• however, GnRH neurons show normal distribution throughout the rostral-caudal axis from the nasal region to the cerebellum, suggesting normal GnRH neuronal migration
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• expression levels of Gnrh1 (gonadotropin releasing hormone 1) and Otx2 (orthodenticle homeobox 2) are significantly reduced in the adult hypothalamus
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• reduced olfactory interneuron activity
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• 4 and 8 weeks after chemical ablation neuronal regeneration is impaired or delayed
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homeostasis/metabolism
| N |
• both male and female mice show normal serum levels of growth hormone (GH) and insulin-like growth factor I (IGF1) relative to wild-type controls
(J:174086)
• 2 h after administration of leuprolide, a GnRH agonist, both male and female mice show a normal increase in serum levels of LH and FSH relative to similarly treated wild-type controls
(J:174086)
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N |
• female mice show normal serum levels of insulin and leptin relative to wild-type females
(J:174086)
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 N |
• 2 h after administration of antide, a gonadotropin-releasing hormone (GnRH) antagonist, male mice show a normal decrease in serum levels of LH and FSH relative to similarly treated wild-type controls
(J:174086)
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• at late estrus, 3-4-month-old female mice show an 83% reduction in serum FSH levels relative to wild-type controls
• in contrast, male mice show normal serum FSH levels
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• at late estrus, 3-4-month-old female mice show a 74% reduction in serum LH levels relative to wild-type controls
• male mice show an 86% reduction in serum LH levels relative to wild-type controls
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cellular
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• cilia markers are consistently patchy indicating regional decreases in cilia components
• patchy distribution is confirmed by SEM
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• embryos exhibit a significant reduction in TUNEL-positive cells in the nasal region relative to wild-type embryos at E10.5 (-21%), E11.5 (-11%) and E12.5 (-13%]
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• GnRH neurogenesis is impaired resulting in reduced GnRH neurons in embryos and adult mice
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• E10.5 embryos show a 49% reduction in phospho-histone H3-positive proliferating cells in the olfactory placode relative to wild-type controls
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endocrine/exocrine glands
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• mice show normal pituitary gland histology at E10.5, E14.5, E18.5 and in adulthood
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• adult male and female mice show, respectively, a 51% and 54% reduction in anti-GnRH immunofluorescence in the median eminence
• however, immunofluorescence of arginine vasopressin (AVP)-positive fibers in the median eminence is normal
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• expression levels of Gnrhr (gonadotropin releasing hormone receptor) are significantly reduced in the adult pituitary gland
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growth/size/body
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• 10% decrease in the number of basal cells
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• cilia markers are consistently patchy indicating regional decreases in cilia components
• patchy distribution is confirmed by SEM
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• the normal arrangement in parallel stacked columns in the epithelium is lost
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• 30% reduction in number
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• both male and female mice are significantly smaller than wild-type controls
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respiratory system
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• 10% decrease in the number of basal cells
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• cilia markers are consistently patchy indicating regional decreases in cilia components
• patchy distribution is confirmed by SEM
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• the normal arrangement in parallel stacked columns in the epithelium is lost
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• 30% reduction in number
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• 50% reduction in proliferating basal cells in adults
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• 4 and 8 weeks after chemical ablation neuronal regeneration is impaired or delayed
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craniofacial
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• 10% decrease in the number of basal cells
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• cilia markers are consistently patchy indicating regional decreases in cilia components
• patchy distribution is confirmed by SEM
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• the normal arrangement in parallel stacked columns in the epithelium is lost
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• 30% reduction in number
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| CHARGE syndrome | DOID:0050834 |
OMIM:214800 |
J:148116 , J:174086 | |
