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Most of exon 4 and all of exon 5 were replaced by a cassette containing lacZ and neo inserted by homologous recombination. The deleted region encoded amino acids 99 through 176, encompassing the MEF2 binding domain, thus affecting the predominate MEF2-interacting transcriptional repressor (MITR) splice form. RT-PCR and sequence analysis of mutant mice identified aberrant transcript in which the inserted cassette was excised and exon 3 had spliced to exon 6. This alternate splice pattern introduced two stop codons immediately downstream of exon 3, and therefore precluded the translation of normal protein. (J:78734)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
