Cln3^em1Dprc
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cln3^em1Dprc
• Name: CLN3 lysosomal/endosomal transmembrane protein, battenin; endonuclease-mediated mutation 1, David Pearce
• MGI ID: MGI:6474168
• Synonyms: Cln3^Q352X
• Gene: Cln3 Location: Chr7:126170571-126184991 bp, - strand Genetic Position: Chr7, 69.16 cM
• Alliance: Cln3^em1Dprc page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/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)

Disease models

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)