TALEN pairs targeting the second exon lead to a 2 nucleotide frameshift deletion resulting in a premature termination codon after codon 133 and removing the leucine-rich repeat and WH2 actin-binding domains. Western blot analysis confirmed absence of protein in skeletal muscle. (J:222174)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6 x C3H)F2
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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