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ENU mutagenesis induced a G to T in the splice donor site following exon 18 that results in skipping of the exon and protein truncation (1-703). THe predicted truncated protein lacks the coiled coil rod domain and undetectable on western blots with the C-terminal NMHC IIB antibody. (J:248868)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
