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PCR mutagenesis was used to create an I304N mutation in exon 10, changing sequence CTG(Leu) ATT(Ile) CAA(Gln) to CTT(Leu) AAC(Asn) CAG(Gln). A loxP-Auto-Cre-NeoR-loxP (ACNF) cassette was inserted in intron 10. Northern blot and quantitative RT-PCR analysis showed that the mutant mRNA was expressed at wild type level and was of the expected size in both brain and testes, but Western blot showed that protein levels were decreased to 13-30% that of wild type. Sequencing of RT-PCR products confirmed the presence of the mutation. (J:155593)
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
