CRISPR/Cas9 technology generated a 5-bp deletion (TGCGC) plus a single base pair insertion (A) in exon 18 (c.1450_1455delTGTGC, c.1454_1455insA), resulting in a frameshift mutation 91 residues into the catalytic domain (aa483) and a subsequent early termination codon at amino acid 507 and a truncated protein devoid of the catalytic domain. RNAseq analysis from hippocampal tissue shows a 3-fold decrease in RNA levels compared to in wild-type mice. Homozygotes are devoid of catalytic activity. (J:319836)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6N
Endonuclease-mediated
Insertion, Intragenic deletion
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1
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1

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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