The targeting vector used to create the Csrp3tm1a(EUCOMM)Hmguallele was modified with a T-to-G mutation to change cysteine codon 58 (TGT) in exon 3 to glycine (GGT) (p.C58G). Founder mice created after homologous recombination with this modified vector were crossed with Flpe expressing mice, resulting in the removal of the FRT site flanked lacZ and neomycin resistance gene cassettes inserted into intron 2. The resulting allele contains single FRT and loxP sites in intron 2 and an exon 3 with the p.C58G mutation. The mutation mimics the same human mutation associated with hypertrophic cardiomyopathy (HCM). (J:307893)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6N
Targeted
Insertion
--
1
4
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

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PMID
Journal
Year
IF
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