Introduction of a G to A point mutation in codon 374 (orthologous to human codon 380) that altered the corresponding amino acid from a glycine to an arginine. A loxP flanked neomycin cassette was also inserted into intron 4. Northern blot analysis revealed that a novel high molecular weight mRNA was made in homozygous mutants that hybridized with both Fgfr3 and Neo probes, suggesting that the neomycin cassette may have interfered with proper splicing of the transcript. (J:54829)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Single point
--
1
39
1

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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