| Primary Identifier | MGI:7486489 | Allele Type | Endonuclease-mediated |
| Attribute String | Null/knockout | Gene | Cep78 |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| description | Phenotypic Similarity to Human Syndrome in Orthologous Human Gene: (CONE-ROD DYSTROPHY AND HEARING LOSS 1; CRDHL1). Cep78em1Xjg 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). |
| molecularNote | 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. |
