CRISPR technology was used to generate a G to A nucleotide substitution that results in the amino acid substitution of arginine for glycine at position 220 (G220R). Founder 2 is heterozygous for the expected point mutation without any additional mutations. Founder 3 is heterozygous for the expected point mutation and an additional single base pair insertion. Founder 21 is heterozygous for the expected point mutation and an additional 10 bp deletion. Founder 22 is heterozygous for the expected point mutation and an additional 8 bp deletion. Founder 28 is heterozygous for the expected point mutation without any additional mutations. The pound symbol (#) is used for the pool of founders 3, 21 and 22. (J:222872)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Endonuclease-mediated
Insertion, Intragenic deletion, Single point
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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

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PMID
Journal
Year
IF
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