Nacc1^em1Mdif
Endonuclease-mediated Allele Detail

Summary

• Symbol: Nacc1^em1Mdif
• Name: nucleus accumbens associated 1, BEN and BTB (POZ) domain containing; endonuclease-mediated mutation 1, Marian DiFiglia
• MGI ID: MGI:8172584
• Synonyms: Nacc1^R284W
• Gene: Nacc1 Location: Chr8:85397106-85414528 bp, - strand Genetic Position: Chr8, 41.02 cM
• Alliance: Nacc1^em1Mdif page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a CGT to TGG change at position 850 (c.850C>T) and 852 (c.852T>G) resulting in an arginine to tryptophan substitution at amino acid 284 (p.R284W). This corresponds to the human p.R298W mutation first identified in 7 individuals with developmental delay, failure to thrive, epilepsy, bilateral cataracts, delayed brain myelination, involuntary movements, no speech, and gastrointestinal distress. (J:354196)

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 Nacc1 Mutation: 63 strains or lines available

References

• Original: J:354196 Deehan MA, et al., Nacc1 Mutation in Mice Models Rare Neurodevelopmental Disorder with Underlying Synaptic Dysfunction. J Neurosci. 2024 Apr 3;44(14)
• All: 1 reference(s)