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Pmfbp1em#Jfw
Endonuclease-mediated Allele Detail
Summary
Symbol: Pmfbp1em#Jfw
Name: polyamine modulated factor 1 binding protein 1; endonuclease-mediated mutation, Jian-Feng Wu
MGI ID: MGI:6681928
Gene: Pmfbp1  Location: Chr8:110220659-110269272 bp, + strand  Genetic Position: Chr8, 57.05 cM
Alliance: Pmfbp1em#Jfw page
Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Endonuclease-mediated (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsCRISPR/Cas9 technology was used to introduce deletions in exon 3. Mouse lines with a 23 bp, a 19 bp deletion, a 2 bp deletion, a 226 bp deletion (209 bp in exon), a 26 bp deletion, a 91 bp deletion, and a 12 bp deletion were used and experimental data from these lines was pooled. The pound symbol (#) is used because the lines are pooled. (J:303070)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 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 Pmfbp1 Mutation:  55 strains or lines available
References
Original:  J:303070 Sha YW, et al., Biallelic mutations in PMFBP1 cause acephalic spermatozoa. Clin Genet. 2019 Feb;95(2):277-286
All:  1 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
03/19/2024
MGI 6.23
The Jackson Laboratory