Wdr62em1Dng
Endonuclease-mediated Allele Detail
|
Symbol: |
Wdr62em1Dng |
Name: |
WD repeat domain 62; endonuclease-mediated mutation 1, Dominic C H Ng |
MGI ID: |
MGI:6790657 |
Synonyms: |
WDR62V66M |
Gene: |
Wdr62 Location: Chr7:29939563-29979844 bp, - strand Genetic Position: Chr7, 17.34 cM
|
Alliance: |
Wdr62em1Dng page
|
|
Strain of Origin: |
Not Applicable
|
|
Allele Type: |
|
Endonuclease-mediated (Humanized sequence) |
Mutation: |
|
Single point mutation
|
|
|
Mutation details: Valine codon 66 (GTG) wast targeted for change to a methionine codon (ATG)(c.196G>A, p.V66M) with an sgRNA and an ssODN template (GAGCTGCTGGAGCAAATATTTTTCTGACAGCCCTTTTCTTTGCAGGTGACACTTGAGAAGATGCTTGGCATCACAGCCCAGAACAGCAGCGGGCTAACCTGTGACCCTGGCACAGGCCATG) using CRISPR/Cas9 technology. The mutation mimics the p.V65M mutation found in some patients presenting with microcephaly or cortical malformations.
(J:285212)
|
|
|
|
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 Wdr62 Mutation: |
47 strains or lines available
|
|
Original: |
J:285212 Shohayeb B, et al., The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development. Hum Mol Genet. 2020 Jan 15;29(2):248-263 |
All: |
2 reference(s) |
|