Slc1a4^tm1.1Wechu
Targeted Allele Detail

Summary

• Symbol: Slc1a4^tm1.1Wechu
• Name: solute carrier family 1 (glutamate/neutral amino acid transporter), member 4; targeted mutation 1.1, Wendy Chung
• MGI ID: MGI:8278920
• Synonyms: Slc1a4-E256K
• Gene: Slc1a4 Location: Chr11:20252180-20282713 bp, - strand Genetic Position: Chr11, 12.97 cM
• Alliance: Slc1a4^tm1.1Wechu page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:359113
• Parent Cell Line: KV1 (ES Cell)
• Strain of Origin: (C57BL/6J x 129S6/SvEvTac)F1

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Glutamic acid codon 256 (GAG) in exon 4 was changed to lysine (AAG) (p.E256K) and an FRT site flanked neomycin resistance gene cassette was inserted into intron 4. The neo cassette was removed through subsequent Flp-mediated recombination. The mutation, which affects the amino acid transporter function of the encoded protein, is the equivalent of the same human mutation associated with progressive microcephaly in babies. (J:359113)

Expression

In Structures Affected by this Mutation:

7 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:359113 Odeh M, et al., A new type of blood-brain barrier aminoacidopathy underlies metabolic microcephaly associated with SLC1A4 mutations. Brain. 2024 Nov 4;147(11):3874-3889
• All: 1 reference(s)