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Spata16em1Osb
Endonuclease-mediated Allele Detail
Summary
Symbol: Spata16em1Osb
Name: spermatogenesis associated 16; endonuclease-mediated mutation 1, Research Institute for Microbial Diseases, Osaka U
MGI ID: MGI:6147689
Synonyms: Spata16em1Maik, Spata16em1(R284Q)Osb), Spata16pm
Gene: Spata16  Location: Chr3:26691769-27037361 bp, + strand  Genetic Position: Chr3, 10.74 cM, cytoband A3
Alliance: Spata16em1Osb page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:258202
Parent Cell Line:  EGR-G01 (ES Cell)
Strain of Origin:  (129S2/SvPas x C57BL/6NSlc)F1-Tg(CAG-EGFP,Acr-EGFP)2Osb
Mutation
description
Allele Type:    Endonuclease-mediated (Null/knockout)
Mutation:    Single point mutation
 
Mutation detailsA point mutation (G to A) was introduced in codon 851 of exon 4, predicted to result in a R284Q alteration in the encoded protein. This mouse mutation corresponds to the single amino acid substitution (c.848G>A or R283Q) identified in infertile globozoospermic patients. RT-PCR analysis indicated that the point mutation caused no splicing abnormality. (J:258202)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Spata16 Mutation:  37 strains or lines available
Notes
EGR-G01 cells carry one copy of Tg(CAG-EGFP,Acr-EGFP)2Osb.
References
Original:  J:258202 Fujihara Y, et al., Human Globozoospermia-Related Gene Spata16 Is Required for Sperm Formation Revealed by CRISPR/Cas9-Mediated Mouse Models. Int J Mol Sci. 2017 Oct 21;18(10):2208
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
10/29/2024
MGI 6.24
The Jackson Laboratory