Smpx^em1Jgao
Endonuclease-mediated Allele Detail

Summary

• Symbol: Smpx^em1Jgao
• Name: small muscle protein, X-linked; endonuclease-mediated mutation 1, Jiangang Gao
• MGI ID: MGI:6852752
• Gene: Smpx Location: ChrX:156481969-156535587 bp, + strand Genetic Position: ChrX, 72.67 cM
• Alliance: Smpx^em1Jgao page

Mutation origin

• Strain of Origin: CBA/CaJ

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 86 bp deletion in exon 2. Sequencing of cDNA shows that the entire exon 2 is absent which is probably due to loss of the GT-AG splice site causing splicing to skip through exon 2. (J:314284)

Disease models

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 Smpx Mutation: 3 strains or lines available

References

• Original: J:314284 Tu H, et al., SMPX Deficiency Causes Stereocilia Degeneration and Progressive Hearing Loss in CBA/CaJ Mice. Front Cell Dev Biol. 2021;9:750023
• All: 1 reference(s)