Phenotypes associated with this allele

• Allele Symbol: Ccdc28b^em1Jlba
• Allele Name: endonuclease-mediated mutation 1, Jose L Badano
• Allele ID: MGI:7576205
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ccdc28b^em1Jlba/Ccdc28b^em1Jlba	C57BL/6J-Ccdc28b^em1Jlba	MGI:7576214

Genotype
MGI:7576214

hm1

• Allelic Composition: Ccdc28b^em1Jlba/Ccdc28b^em1Jlba
• Genetic Background: C57BL/6J-Ccdc28b^em1Jlba

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

increased vertical activity ( J:325766 )

increased stereotypic behavior ( J:325766 )

• mice bury more marbles than controls in the marble burying test, indicating stereotypical behavior

• however, mice show normal grooming and no change in anxiety level in the elevated plus maze, no differences in the novel object recognition test memory, or in total distance traveled in the open field

abnormal sexual interaction ( J:325766 )

♀ • females show a delay (approximately 14 weeks compared to 7 weeks for wild-type mice) in first mating but reproduce at mendelian rates

abnormal social investigation ( J:325766 )

• in a reciprocal social interaction test, mice show reduced nose-nose and side sniffing, however frequency of anogenital sniffing is not different

cellular

abnormal cilium morphology ( J:325766 )

• modest, but significant, decrease in cilia length in the brain (amygdala, hippocampus CA1, dentate gyrus)

• however, mice do not show overt ciliary defects, showing normal length and ciliation in mouse embryonic fibroblasts, normal cilia number and length in the kidney, although a trend towards a reduction in cilia density is seen in the kidney cortex and medulla, and normal cilia density in the brain

homeostasis/metabolism

increased circulating glucose level ( J:325766 )

• mice show elevated basal glucose levels after 7 weeks on a high-fat diet but by 11 weeks of high-fat diet the difference is lost mainly due to an increase in the glucose basal levels in controls

abnormal glucose tolerance ( J:325766 )

• mice show a trend, but not significant, towards an impaired glucose tolerance test response, particularly after 11 weeks on high-fat diet

nervous system

abnormal brain morphology ( J:325766 )

• modest, but significant, decrease in cilia length in the brain (amygdala, hippocampus CA1, dentate gyrus)

growth/size/body

growth/size/body region phenotype ( J:325766 )

N • mice gain weight at a normal rate, do not develop obesity on a normal or high-fat diet, and exhibit normal food intake

vision/eye

vision/eye phenotype ( J:325766 )

N • mice do not develop retinal degeneration and show normal retinal structure