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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Crybb2tm1Itl
targeted mutation 1, inGenious Targeting Laboratory
MGI:3821715
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Crybb2tm1Itl/Crybb2tm1Itl C57BL/6-Crybb2tm1Itl MGI:3821716


Genotype
MGI:3821716
hm1
Allelic
Composition
Crybb2tm1Itl/Crybb2tm1Itl
Genetic
Background
C57BL/6-Crybb2tm1Itl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Crybb2tm1Itl mutation (0 available); any Crybb2 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• lens opacities are present at 6 to 8 weeks of age and progress in severity with age
• at 1 year of age, the cataract region includes the Y-sutures forming a 'fishbone' pattern
• punctate anterior cortical cataracts are first visible at 6 months of age
• punctate cataracts are observed in the posterior portion of the cortex at 6 to 8 weeks of age and become obvious by 4 months of age
• the entire lens is opaque by 18 months of age
• at 18 months of age, lens weight is 34% less than in wild-type mice and axial diameter is 5% smaller than in wild-type mice
• at 18 months of age, the eye ball is smaller than in wild-type mice

reproductive system
• TUNEL and Annexin V assays showed a significant increase in granulosa cell apoptosis
• mRNA levels of Bcl2 (an anti-apoptotic gene) are significantly decreased in granulosa cells
• mRNA levels of cell cycle-related genes Cdk4 and Ccnd2 are significantly decreased, whereas mRNA levels of Cdkn1b (cyclin-dependent kinase inhibitor 1B, aka p27) are significantly increased in granulosa cells
• upregulation of Cdkn1b in the granulosa cells suggests a cell cycle arrest at the G1/G0 phase
• at 11 weeks of age, the number of preovulatory follicles (with a rim of cumulus cells surrounding the oocyte) is significantly lower than that in wild-type ovaries
• at 11 weeks of age, the number of primordial follicles is significantly lower than that in wild-type ovaries
• at 11 weeks of age, the number of secondary follicles is significantly lower than that in wild-type ovaries
• the number of atretic follicles per total number of follicles is significantly higher than that in wild-type ovaries
• decreased granulosa cell proliferation delays ovarian follicular development, leading to a reduced number of primordial, secondary and preovulatory follicles
• after induction of superovulation with PMSG + hCG treatment, the number of eggs collected from the ampulla of the oviduct is significantly lower than that in wild-type females
• when 11-week-old female mice are mated with fertile wild-type males for 5 months, the number of pups per litter and number of litters per female is significantly reduced
• female mice produce a significantly lower number of pups per litter than wild-type females

cellular
• in granulosa cells, the percentage of G0/G1 phase is significantly increased, while the percentages of S and G2/M phases are significantly decreased relative to wild-type granulosa cells
• mRNA levels of cell cycle-related genes Cdk4 and Ccnd2 are significantly decreased, whereas mRNA levels of Cdkn1b (cyclin-dependent kinase inhibitor 1B, aka p27) are significantly increased in granulosa cells
• upregulation of Cdkn1b in the granulosa cells suggests a cell cycle arrest at the G1/G0 phase
• percentage of G2/M phase is significantly decreased in granulosa cells
• lenses exposed to hydrogen peroxide exhibit a more severe degree of opacity than similarly treated wild-type lenses
• TUNEL and Annexin V assays showed a significant increase in granulosa cell apoptosis
• mRNA levels of Bcl2 (an anti-apoptotic gene) are significantly decreased in granulosa cells
• mRNA levels of cell cycle-related genes Cdk4 and Ccnd2 are significantly decreased, whereas mRNA levels of Cdkn1b (cyclin-dependent kinase inhibitor 1B, aka p27) are significantly increased in granulosa cells
• upregulation of Cdkn1b in the granulosa cells suggests a cell cycle arrest at the G1/G0 phase

homeostasis/metabolism
• however, serum estradiol levels are normal at proestrous and estrus
• at 11 weeks of age, serum estradiol levels are significantly increased at metestrus and diestrus
• at 11 weeks of age, serum progesterone levels are significantly decreased at diestrus
• however, serum progesterone levels are normal at other estrous cycle stages

endocrine/exocrine glands
• TUNEL and Annexin V assays showed a significant increase in granulosa cell apoptosis
• mRNA levels of Bcl2 (an anti-apoptotic gene) are significantly decreased in granulosa cells
• mRNA levels of cell cycle-related genes Cdk4 and Ccnd2 are significantly decreased, whereas mRNA levels of Cdkn1b (cyclin-dependent kinase inhibitor 1B, aka p27) are significantly increased in granulosa cells
• upregulation of Cdkn1b in the granulosa cells suggests a cell cycle arrest at the G1/G0 phase
• at 11 weeks of age, the number of preovulatory follicles (with a rim of cumulus cells surrounding the oocyte) is significantly lower than that in wild-type ovaries
• at 11 weeks of age, the number of primordial follicles is significantly lower than that in wild-type ovaries
• at 11 weeks of age, the number of secondary follicles is significantly lower than that in wild-type ovaries
• the number of atretic follicles per total number of follicles is significantly higher than that in wild-type ovaries
• decreased granulosa cell proliferation delays ovarian follicular development, leading to a reduced number of primordial, secondary and preovulatory follicles





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory