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Targeted Allele Detail
Symbol: Pomctm1Low
Name: pro-opiomelanocortin-alpha; targeted mutation 1, Malcolm J Low
MGI ID: MGI:1857481
Synonyms: betaend-, beta-END-, End-, POMCX*4-
Gene: Pomc  Location: Chr12:3954951-3960642 bp, + strand  Genetic Position: Chr12, 1.99 cM
Germline Transmission:  Earliest citation of germline transmission: J:47711
Parent Cell Line:  D3 (ES Cell)
Strain of Origin:  129S2/SvPas
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
Mutation detailsA PGK-neomycin based targeting vector was used to introduce a premature start codon into exon 3, resulting in the truncation of the translated protein. In situ hybridization on homozygous mutant animals demonstrates that the truncation event had no effect on the distribution or level of transcript. Immunoreactivity demonstrated that Homozygous mutant mice had no detectable beta endorphin activity in the hypothalamus or pituitary (J:78759)
View phenotypes and curated references for all genotypes (concatenated display).
In Structures Affected by this Mutation: 9 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Pomc Mutation:  14 strains or lines available
Additional reference J:65685 identifies the ES cell line origin as 129S2/SvEv. It is more likely that the mice used in this additional reference were derived from the targeted D3 ES cells (129S2/SvPas) first generated in J:78759 and implanted in mice in J:47711.
Original:  J:47711 Rubinstein M, et al., Absence of opioid stress-induced analgesia in mice lacking beta-endorphin by site-directed mutagenesis. Proc Natl Acad Sci U S A. 1996 Apr 30;93(9):3995-4000
All:  35 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.16
The Jackson Laboratory