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| Nomenclature |
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Symbol:
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Pex2tm1Plf
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Name:
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peroxisomal biogenesis factor 2;
targeted mutation 1, Phyllis L Faust
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MGI ID: |
MGI:2180128 |
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Synonyms: |
PEX2- |
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Gene:
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Pex2
Location:
Chr3:5560188-5576239 bp, - strand
Genetic Position: Chr3,
1.96 cM
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Variable size of and cranial abnormalities in Pex2tm1Plf/Pex2tm1Plf mice
Show the 4 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:44975
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A PKC-neo cassette was used to replace exon 5, which contains the translation initiation site and the entire coding sequence. Northern analysis of RNA isolated from the liver, brain, and kidney of homozygous mutant mice revealed an absence of message.
(J:44975)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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Original: |
J:44975
Faust PL et al.,
"Targeted deletion of the PEX2 peroxisome assembly gene in mice provides a model for Zellweger syndrome, a human neuronal migration disorder."
J Cell Biol 1997 Dec 1;139(5):1293-305
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All: |
7 reference(s)
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Analysis Tools
