Exon 1 was deleted after germline recombination of loxP sites. Western blot analysis confirmed the absence of full-length 46-kDa APMAP protein in all tested tissues of homozygous mutant mice. A second protein band of about 42 kDa was detected in all adipose tissue (AT) depots (epididymal WAT, stromal WAT, mesenteric and perirenal WATs, and brown AT) and was not affected by the deletion of exon 1. Mass spectrometry confirmed that the 42-kDa band detected by immunoblot analysis is a truncated version of APMAP protein. The mouse AT-specific APMAP isoform is independently transcribed from exon 2, as verified by 5' RACE analysis. The knock-out mouse model described in J:247647 lacks the full-length APMAP variant, i.e. the only isoform expressed in humans. (J:247647)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd-Hprt1b-m3
Targeted
Intragenic deletion
--
1
--
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

Title
PMID
Journal
Year
IF
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