This allele contains an extra copy of exon 4, interrupted by the lacZ coding sequence with a polyadenylation signal, inserted in reverse orientation immediately upstream of the endogenous exon 4. A V(D)J recombination signal sequence (RSS) with a 12-bp spacer resides upstream of the reversed exon4-lacZ, and an RSS with a 23-bp spacer lies downstream of the endogenous exon 4. The allele was generated in vivo by crossing mice heterozygous for Cbfbtm2Spe with mice expressing cre recombinase under control of the cytomegalovirus promoter to delete a loxP-flanked neo cassette in the progeny. lacZ is not expressed in cells of mice with this mutation. The exogenous sequences cause aberrant splicing resulting in loss of exon 4 from a significant proportion of transcripts from this allele, so that heterozygous mutant mice express ~65% of the normal level of full-length mRNA and homozygous mutants ~30%. (J:124224)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S4/SvJae
Targeted
Insertion
Recessive
1
2
2

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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