In ES cells carrying the Nprl3 allele, Hba erythroid-specific enhancer R3 in Nprl3 intron 2 was replaced with a loxP site flanked neomycin resistance gene cassette. Subsequent cre-mediated recombination removed the neo cassette and the 12402 bp span between the loxP site in place of Nprl3 promoter P6 (Rr246493) and enhancer R3 (Rr351), which also serves as a promoter for Nprl3 transcripts with alternative, more downstream, 1st exons. The deletion also includes putative Hba enhancer Rm or DHS-12 (Rr352) in Nprl3 intron 1 and Nprl3 exons 1 and 2. RNA-FISH analysis indicates Nprl3 expression is eliminated in the brain but not in erythroid cells. Expression in erythroid cells from homozygous mice is about 20% that of wild-type, presumably from alternatively spliced transcripts with alternative 1st exons. No protein expression was detected in any tissue. (J:184965)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intergenic deletion, Intragenic deletion
--
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

Title
PMID
Journal
Year
IF
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