Cep78^em1Xjg
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cep78^em1Xjg
• Name: centrosomal protein 78; endonuclease-mediated mutation 1, Xuejiang Guo
• MGI ID: MGI:7486489
• Synonyms: Cep78^-
• Gene: Cep78 Location: Chr19:15933137-15962353 bp, - strand Genetic Position: Chr19, 10.89 cM
• Alliance: Cep78^em1Xjg page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 genome editing technology was used to generate a deletion of exons 2-11 of the gene. Immunoblot analysis confirmed the complete absence of protein expression in the neural retina and testes of homozygous mutant mice. (J:336106)

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Cep78 Mutation: 43 strains or lines available

Notes

Phenotypic Similarity to Human Syndrome in Orthologous Human Gene: (CONE-ROD DYSTROPHY AND HEARING LOSS 1; CRDHL1).
Cep78^em1Xjg homozygotes provide a mouse model of a type of syndrome involving Cone-Rod Dystrophy (CRD) and male infertility. CEP78 dysfunction induces similar phenotypes and ultra-structure changes in human and mice, including disturbed ciliary structure in photoreceptors, multiple morphological abnormalities of sperm flagella (MMAF), and aberrant spermatid head formation (J:336106).

References

• Original: J:336106 Zhu T, et al., Absence of CEP78 causes photoreceptor and sperm flagella impairments in mice and a human individual. Elife. 2023 Feb 9;12
• All: 1 reference(s)