Analysis Tools
mortality/aging
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• mating of heterozygotes results in a sub-Mendelian ratio of homozygous offspring (19% versus expected 25%)
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growth/size/body
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• homozygotes are runts at birth
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• at 3 weeks of age, homozygotes weigh less than wild-type controls
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• after weaning, homozygotes begin to gain more weight than wild-type mice due to increased food intake
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• at 12 weeks of age, both male and female homozygotes weigh significantly more than wild-type controls, and differences become greater as mice age
• by 7 months, homozygotes weigh 41.1 +/- 3.25 g whereas wild-type controls weigh 28.7 +/- 2.8 g
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behavior/neurological
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• after weaning, homozygotes begin to gain more weight than wild-type mice due to increased food intake
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reproductive system
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• at 4-8 months of age, mutant seminiferous tubules exhibit a paucity of sperm flagella
• some mutant sperm have abnormal flagella
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• in the principal piece, outer dense fibers surrounding the microtubular structure are highly disorganized
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• only 8.8% of mutant sperm flagella have normal 9+2 axonemal structures
• abnormal sperm flagella show disorganized microtubule structures
• a ring-type of microtubule structure is frequently observed
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• TEM analysis revealed that the microtubular structures and the outer dense fibers surrounding the microtubular structure in the principal piece are highly disorganized
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• most mutant sperm lack a flagellar tail
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• male infertility is associated with abnormal sperm flagellar axonemes
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nervous system
| N |
• at 4-8 months of age, homozygotes show no apparent defects in overall cerebellum morphology or foliation
• cerebellar Purkinje cells appear normal
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• at 3 weeks of age, TEM analysis revealed short and bulged cilia with vesicles, and motile cilia with defective axonemal structures
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• at 3 months of age, remaining cilia are shorter than normal
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• at 3 months of age, homozygotes show a significantly reduced number of motile cilia in the brain ependymal layer
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• at 4-8 months of age, homozygotes show enlarged lateral ventricles
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• at 4-8 months of age, homozygotes show an enlarged dorsal third ventricle
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• at 4-8 months of age, homozygotes show a reduction in the size of the corpus striatum
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• at 4-8 months of age, homozygotes show a reduction in the size of the hippocampus
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• at 4-8 months of age, homozygotes show thinning of the cerebral cortex
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• at 4-8 months of age, mutant eyes show a significant degeneration of the inner segment of photoreceptor cells
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• at 4-8 months of age, mutant eyes show a significant degeneration of the outer segment of photoreceptor cells
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vision/eye
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• at 4-8 months of age, mutant eyes show a significant degeneration of the inner segment of photoreceptor cells
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• at 4-8 months of age, mutant eyes show a significant degeneration of the outer segment of photoreceptor cells
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• at 4-8 months of age, mutant eyes show a significant degeneration of the retinal outer nuclear layer
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• at 4-8 months of age, homozygotes display photoreceptor cell loss
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cellular
| N |
• homozygotes show normal primary cilia numbers and cilia length in the kidney and pancreas
• primary cilia form and appear grossly normal in cultured kidney epithelial cells and mouse embryonic fibroblasts
• motile cilia in the trachea have normal 9+2 axonemal structures
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• homozygotes show abnormal accumulation of the dopamine D1 receptor to the ciliary membrane in multiple brain regions including the striatum and amygdala, unlike wild-type controls
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• at 3 weeks of age, TEM analysis revealed short and bulged cilia with vesicles, and motile cilia with defective axonemal structures
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• at 3 months of age, remaining cilia are shorter than normal
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• at 3 months of age, homozygotes show a significantly reduced number of motile cilia in the brain ependymal layer
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• at 4-8 months of age, mutant seminiferous tubules exhibit a paucity of sperm flagella
• some mutant sperm have abnormal flagella
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|
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• in the principal piece, outer dense fibers surrounding the microtubular structure are highly disorganized
|
|
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• only 8.8% of mutant sperm flagella have normal 9+2 axonemal structures
• abnormal sperm flagella show disorganized microtubule structures
• a ring-type of microtubule structure is frequently observed
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• TEM analysis revealed that the microtubular structures and the outer dense fibers surrounding the microtubular structure in the principal piece are highly disorganized
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• most mutant sperm lack a flagellar tail
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taste/olfaction
| N |
• bitter taste receptors in cultured mutant kidney cells are functional, as shown by normal Ca2+ mobilization following stimulation with the bitter compound denatonium
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renal/urinary system
| N |
• homozygotes lack kidney cysts
• in culture, mutant primary kidney cells show normal ciliary membrane localization of polycystin-1, and polycystin-2, and bitter taste receptors
• bitter taste receptors in mutant kidney cells are functional, as shown by normal Ca2+ mobilization following stimulation with the bitter compound denatonium
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limbs/digits/tail
| N |
• homozygotes do not exhibit polydactyly of the forelimbs or hindlimbs
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Bardet-Biedl syndrome 7 | DOID:0110129 |
OMIM:615984 |
J:226740 | |
