Iqsec2^em1Frk
Endonuclease-mediated Allele Detail

Summary

• Symbol: Iqsec2^em1Frk
• Name: IQ motif and Sec7 domain 2; endonuclease-mediated mutation 1, Wayne N Frankel
• MGI ID: MGI:6392157
• Gene: Iqsec2 Location: ChrX:150927193-151008232 bp, + strand Genetic Position: ChrX, 68.46 cM
• Alliance: Iqsec2^em1Frk page

Mutation origin

• Strain of Origin: C57BL/6NJ

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Single point mutation
• Mutation details: This CRISPR/Cas9 mediated deletion of a single nucleotide T at position 2579, in exon 7, results in a a phenylalanine to serine mutation at amino acid 860 which causes a frameshift mutation that introduces a stop codon. Semi-quantatative PCR and Western blot analysis indicate this is a null allele. (J:284762)
• Inheritance: Semidominant

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Iqsec2 Mutation: 12 strains or lines available

References

• Original: J:284762 Sah M, et al., Altered excitatory transmission onto hippocampal interneurons in the IQSEC2 mouse model of X-linked neurodevelopmental disease. Neurobiol Dis. 2020 Jan 21;137:104758
• All: 1 reference(s)