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Exon 6 contain nucleotide substitutions (c.571AGC>GCA) resulting in an amino acid substitution of alanine for serine at position 190 (S190A). A floxed neo cassette was inserted downstream of exon 7. Transcript expression is reduced indicating that this allele is hypomorphic. (J:153297)
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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References Literature
Title
PMID
Journal
Year
IF
