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Cln3em1Dprc
Endonuclease-mediated Allele Detail
Summary
Symbol: Cln3em1Dprc
Name: CLN3 lysosomal/endosomal transmembrane protein, battenin; endonuclease-mediated mutation 1, David Pearce
MGI ID: MGI:6474168
Synonyms: Cln3Q352X
Gene: Cln3  Location: Chr7:126170571-126184991 bp, - strand  Genetic Position: Chr7, 69.16 cM
Alliance: Cln3em1Dprc page
Mutation
origin
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Single point mutation
 
Mutation detailsCRISPR/Cas9 technology introduced a C to T nonsense mutation at position 1054 (c.1054C>T) in exon 16 causing glutamine 352 to be replaced with a premature stop codon (Q352X). Homozygous mice show reduced transcript levels in various tissues. (J:294634)
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 Cln3 Mutation:  38 strains or lines available
References
Original:  J:294634 Langin L, et al., A tailored Cln3(Q352X) mouse model for testing therapeutic interventions in CLN3 Batten disease. Sci Rep. 2020 Jun 29;10(1):10591
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