This allele from project Cnksr2-7605J-M4582 was generated at The Jackson Laboratory by injecting Cas9 RNA and 4 guide sequences ATAAGTAACCCCACATACAT, TGTACAAACCGATGTATGTG, TTGTCCCACTGCCATCACAT and GAAAAGCTTTTAATAAATAA, which resulted in a 321 bp deletion spanning exon 3 beginning at Chromosome X negative strand position 157994008 bp, CATAGGATGATGAAAAGCTT, and ending after TAAGTAACCCCACATACATCG at 157993688 bp (GRCm38/mm10). This mutation deletes exon 3 and 118 bp of flanking intronic sequence including the splice acceptor and donor, and is predicted to result in a change in amino acid sequence after residue 76 and early truncation 14 amino acids later. (J:188991)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6NJ
Endonuclease-mediated
Intragenic deletion
Not Specified
1
3
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Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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