Exon 1 was targeted with an sgRNA and ssODN template using CRISPR/Cas9 technology to change aspartic acid codon 24 (GAC) to asparagine (AAC) (p.D24N). The mutation mimics the human NM_022770.2: c.70G>A, p.(Asp24Asn) mutation found in some Meier-Gorlin syndrome patients. (J:331868)

Basic Information

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