About   Help   FAQ
Snrpntm1Rsnk
Targeted Allele Detail
Summary
Symbol: Snrpntm1Rsnk
Name: small nuclear ribonucleoprotein N; targeted mutation 1, James Resnick
MGI ID: MGI:3617823
Synonyms: PWS-ICHs, Snrpntm1Kaj, Snrpntm1(SNRPN)Rsnk
Gene: Snrpn  Location: Chr7:59632243-59789967 bp, - strand  Genetic Position: Chr7, 34.04 cM
Alliance: Snrpntm1Rsnk page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:105412
Parent Cell Line:  CJ7 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Mutation
description
Allele Type:    Targeted (Not Specified)
Mutation:    Insertion
 
Mutation detailsThe Pradar-Willi syndrome imprinting center (PWS-IC), including exon 1, was replaced with the human exon 1 and the shortest region of deletion overlap (PWS-SRO). Transcripts resulted from the human promoter, as expected. (J:105412)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 2 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 Snrpn Mutation:  23 strains or lines available
References
Original:  J:105412 Johnstone KA, et al., A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects. Hum Mol Genet. 2006 Feb 1;15(3):393-404
All:  5 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/12/2024
MGI 6.23
The Jackson Laboratory