Por^tm1Cbk
Targeted Allele Detail

Summary

• Symbol: Por^tm1Cbk
• Name: cytochrome p450 oxidoreductase; targeted mutation 1, Charles B Kasper
• MGI ID: MGI:2159651
• Synonyms: CYPOR-, delta56
• Gene: Por Location: Chr5:135698894-135764180 bp, + strand Genetic Position: Chr5, 75.34 cM, cytoband G1
• Alliance: Por^tm1Cbk page

Por^tm1Cbk/Por^tm1Cbk embryos either exhibit neural tube, cardiac, eye, and limb bud abnormalities or retarded development

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

Mutation origin

• 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⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A 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)

Expression

In Structures Affected by this Mutation:

10 anatomical structure(s)

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: 80 strains or lines available

Notes

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.

References

• 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)