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Phenotypes Associated with This Genotype
Genotype
MGI:5705386
Allelic
Composition
Bbs7tm1Vcs/Bbs7tm1Vcs
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bbs7tm1Vcs mutation (0 available); any Bbs7 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mating of heterozygotes results in a sub-Mendelian ratio of homozygous offspring (19% versus expected 25%)

growth/size/body
• homozygotes are runts at birth
• at 3 weeks of age, homozygotes weigh less than wild-type controls
• after weaning, homozygotes begin to gain more weight than wild-type mice due to increased food intake
• 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

behavior/neurological
• after weaning, homozygotes begin to gain more weight than wild-type mice due to increased food intake

reproductive system
• at 4-8 months of age, mutant seminiferous tubules exhibit a paucity of sperm flagella
• some mutant sperm have abnormal flagella
• only 8.8% of mutant sperm flagella have normal 9+2 axonemal structures
• abnormal sperm flagella show disorganized microtubule structures and outer dense fibers surrounding the microtubular structures
• a ring-type of microtubule structure is frequently observed
• TEM analysis revealed that the microtubular structures and the outer dense fibers surrounding the microtubular structure in the principal piece are highly disorganized
• most mutant sperm lack a flagellar tail
• male infertility is associated with abnormal sperm flagellar axonemes

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
• at 3 weeks of age, TEM analysis revealed short and bulged cilia with vesicles, and motile cilia with defective axonemal structures
• at 3 months of age, remaining cilia are shorter than normal
• at 3 months of age, homozygotes show a significantly reduced number of motile cilia in the brain ependymal layer
• at 4-8 months of age, homozygotes show enlarged lateral ventricles
• at 4-8 months of age, homozygotes show an enlarged dorsal third ventricle
• at 4-8 months of age, homozygotes show a reduction in the size of the corpus striatum
• at 4-8 months of age, homozygotes show a reduction in the size of the hippocampus
• at 4-8 months of age, homozygotes show thinning of the cerebral cortex
• at 4-8 months of age, mutant eyes show a significant degeneration of the inner segment of photoreceptor cells
• at 4-8 months of age, mutant eyes show a significant degeneration of the outer segment of photoreceptor cells

vision/eye
• at 4-8 months of age, mutant eyes show a significant degeneration of the inner segment of photoreceptor cells
• at 4-8 months of age, mutant eyes show a significant degeneration of the outer segment of photoreceptor cells
• at 4-8 months of age, mutant eyes show a significant degeneration of the retinal outer nuclear layer
• at 4-8 months of age, homozygotes display photoreceptor cell loss

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
• 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
• at 3 weeks of age, TEM analysis revealed short and bulged cilia with vesicles, and motile cilia with defective axonemal structures
• at 3 months of age, remaining cilia are shorter than normal
• at 3 months of age, homozygotes show a significantly reduced number of motile cilia in the brain ependymal layer
• at 4-8 months of age, mutant seminiferous tubules exhibit a paucity of sperm flagella
• some mutant sperm have abnormal flagella
• only 8.8% of mutant sperm flagella have normal 9+2 axonemal structures
• abnormal sperm flagella show disorganized microtubule structures and outer dense fibers surrounding the microtubular structures
• a ring-type of microtubule structure is frequently observed
• TEM analysis revealed that the microtubular structures and the outer dense fibers surrounding the microtubular structure in the principal piece are highly disorganized
• most mutant sperm lack a flagellar tail

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

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

limbs/digits/tail
N
• homozygotes do not exhibit polydactyly of the forelimbs or hindlimbs


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/05/2019
MGI 6.14
The Jackson Laboratory