Pabpn1tm1.1Gpvl
Targeted Allele Detail
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Symbol: |
Pabpn1tm1.1Gpvl |
Name: |
poly(A) binding protein, nuclear 1; targeted mutation 1.1, Grace Pavlath |
MGI ID: |
MGI:5888723 |
Gene: |
Pabpn1 Location: Chr14:55131600-55136384 bp, + strand Genetic Position: Chr14, 27.98 cM
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Alliance: |
Pabpn1tm1.1Gpvl page
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Germline Transmission: |
Earliest citation of germline transmission:
J:243638
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Parent Cell Line: |
Bruce 4 (ES Cell)
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Strain of Origin: |
B6.Cg-Thy1a
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Allele Type: |
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Targeted (Conditional ready, Inserted expressed sequence, Reporter) |
Mutation: |
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Insertion
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Mutation details: The gene was targeted with a construct containing the following elements: a loxP site, the wildtype cDNA, an internal ribosomal entry site (IRES), an enhanced green fluorescent protein (eGFP) reporter gene, an FRT site flanked neomycin resistance gene, a second loxP site, and the portion of the human cDNA representing a (GCG)7 alanine codon expansion. This was targeted to immediately downstream of the ATG start codon in exon 1 and adds 7 alanines to the endogenous 10. Subsequent Flp-mediated recombination removed the neo cassette. This alanine expansion allele mimics a mutation found in oculopharyngeal muscular dystrophy (OPMD) patients.
(J:243638)
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Original: |
J:243638 Vest KE, et al., Novel mouse models of oculopharyngeal muscular dystrophy (OPMD) reveal early onset mitochondrial defects and suggest loss of PABPN1 may contribute to pathology. Hum Mol Genet. 2017 Sep 01;26(17):3235-3252 |
All: |
1 reference(s) |
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