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Targeted Allele Detail
Symbol: Portm1Cbk
Name: P450 (cytochrome) oxidoreductase; targeted mutation 1, Charles B Kasper
MGI ID: MGI:2159651
Synonyms: CYPOR-, delta56
Gene: Por  Location: Chr5:135670033-135735326 bp, + strand  Genetic Position: Chr5, 75.34 cM, cytoband G1
Portm1Cbk/Portm1Cbk embryos either exhibit neural tube, cardiac, eye, and limb bud abnormalities or retarded development

Show the 4 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:74666
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA neomycin resistance gene replaces 2.5 kb of intron 1 and all but the last 6 bp of exon 2. This allele deletes the sequences encoding the translation start site as well as the membrane-binding domain. The targeting event generated a truncated protein which localized to the cytoplasm and not present in microsomes. Cytochrome c reductase activity in liver microsomes isolated from adult heterozygous mice was 50% that found in wild-type mice. (J:74666)
View phenotypes and curated references for all genotypes (concatenated display).
In Structures Affected by this Mutation: 12 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Por Mutation:  52 strains or lines available
Two mutant cell lines were generated (G1 and H11). While founder mice are indistinguishable H11 contains the desired targeting events while G1 contains Dup(2Csrp2bp-6330439K17Rik)1Bra. This may account for the two types of homozygous mutant types identified.
Original:  J:74666 Shen AL, et al., Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P450 oxidoreductase. J Biol Chem. 2002 Feb 22;277(8):6536-41
All:  3 reference(s)

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MGI 6.12
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