Exon 17 was replaced with an exon 17 that contained a nucleotide substitution resulting in an amino acid substitution of histidine for arginine at position 552 (R552H). A floxed neo cassette was inserted downstream of exon 17 but was removed by transient cre expression. This mutation corresponds to human mutation R553H of FOXP2 that results in speech-language disorders. (J:132813)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion
--
1
2
5

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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