Slc1a4^em2Tmg
Endonuclease-mediated Allele Detail

Summary

• Symbol: Slc1a4^em2Tmg
• Name: solute carrier family 1 (glutamate/neutral amino acid transporter), member 4; endonuclease-mediated mutation 2, Teresa M Gunn
• MGI ID: MGI:7574169
• Synonyms: Slc1a4^E256K, Slc1a4^K
• Gene: Slc1a4 Location: Chr11:20252180-20282713 bp, - strand Genetic Position: Chr11, 12.97 cM
• Alliance: Slc1a4^em2Tmg page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to A change at position 978 (c.978G>A) resulting in a glutamate to lysine substitution at amino acid 256 (p.E256K). This corresponds to a disease-associated mutation seen in patients with the rare autosomal recessive neurodevelopmental disorder spastic tetraplegia, thin corpus callosum, and progressive microcephaly. (J:344184)

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Slc1a4 Mutation: 41 strains or lines available

References

• Original: J:344184 Ratz-Mitchem ML, et al., Generation and characterization of a knock-in mouse model for spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM). Mamm Genome. 2023 Dec;34(4):572-585
• All: 1 reference(s)