CRISPR/Cas9 endonuclease-mediated genome editing was used to insert a T4709M missense mutation in exon 96 of the gene. The mutation is predicted to result in an amino acid substitution at position 4709 altering threonine to methionine (c.14117 C to T). The mutation is orthologous to the human variant T4706M. Sequencing of N1 mice revealed only the c.14117 CtoT, p.T4706M was incorporated, and not the silent c.14100 C to T change. (J:275500)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6NCrl
Endonuclease-mediated
Single point
--
1
26
2

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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