The gene was disrupted by replacement of 1300 bp of the proline-rich exon with a neomycin resistance cassette via homologous recombination, introducing stop codons in all 3 reading frames. The deleted region encodes 433 amino acids and contains the FH1 domain. Northern blot analysis of brain RNA from homozygous mutants confirmed the absence of wild-type gene product. A partial read-through transcript containing the neomycin cassette was observed. (J:81246)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion
--
1
2
17

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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