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)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1  Disease Model	Cln3^em1Dprc/Cln3^em1Dprc	C57BL/6-Cln3^em1Dprc

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
behavior/neurological	√
impaired coordination	√
cellular	√
abnormal lysosome morphology	√
growth/size/body	√
decreased body weight	√
hematopoietic system	√
increased microglial cell activation	√
homeostasis/metabolism	√
abnormal enzyme/coenzyme activity	√
immune system	√
increased microglial cell activation	√
nervous system	√
increased microglial cell activation	√
abnormal astrocyte morphology	√
astrocytosis	√

View phenotypes and curated references for all genotypes (concatenated display).

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)