A splice acceptor site mutation was engineered at exon 47 to prevent the production of the MPI and MPII splice forms. Additionally, part of exon 47 was replaced with the equivalent fragment of cDNA from the human ortholog for genotyping purposes. A loxP site flanked neomycin resistance gene cassette was inserted into intron 45 and subsequently removed through cre-mediated recombination. RT-PCR experiments confirmed that isoforms MPI and MPII were absent and only isoform MPc was expressed. Similarly, immunoblots failed to detect the MPI isoform while the MPc isoform was overexpressed. (J:243499)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Insertion
--
1
15
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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