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Relnem1Mhat
Endonuclease-mediated Allele Detail
Summary
Symbol: Relnem1Mhat
Name: reelin; endonuclease-mediated mutation 1, Mitsuharu Hattori
MGI ID: MGI:6468501
Synonyms: PA-DV KI, RelnPA-DV
Gene: Reln  Location: Chr5:22089452-22549700 bp, - strand  Genetic Position: Chr5, 9.98 cM, cytoband A3-B1
Alliance: Relnem1Mhat page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Endonuclease-mediated (Not Applicable)
Mutation:    Nucleotide substitutions
 
Mutation detailsCRISPR/Cas9 technology generated a CC to GA change resulting in a proline to aspartate substitution at amino acid 1244 (P1244D) as well as a C to T change resulting in an alanine to valine substitution at amino acid 1245 (A1245V). These mutations abolish the key cleavage site and make the protein uncleavable by ADAMTS-3. (J:293055)
Expression
In Mice Carrying this Mutation: 4 assay results
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 Reln Mutation:  209 strains or lines available
References
Original:  J:293055 Okugawa E, et al., Physiological significance of proteolytic processing of Reelin revealed by cleavage-resistant Reelin knock-in mice. Sci Rep. 2020 Mar 11;10(1):4471
All:  2 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
09/24/2024
MGI 6.24
The Jackson Laboratory