A single nucleotide deletion (GRCm39:chr19:10200883Gdel, c.789Cdel) was engineered in exon 6 (in ENSMUST00000189897) using an sgRNA (targeting GGCAAGGCTGTGACAGTCCCAGG) and an ssODN template with CRISPR/Cas9 technology, leading to a frameshift and premature stop codon (p.N264Tfs*8). The mutation is the equivalent of the human c.789Cdel, p.S264Afs*8 mutation associated with nanophthalmos. (J:302837)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Endonuclease-mediated
Intragenic deletion
--
1
3
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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