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The exon encoding the SDV-XI tyrosine kinase domain was replaced with one in which a G->A transition at position 2365 (c.2365G>A) results in the amino acid substitution of methionine for valine at position 789 (V789M). This mutation is homologous to the V790M mutation identified in human patients with congenital myasthenic syndrome. The modified exon along with an upstream neo cassette are flanked by loxP sites. (J:141024)
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
