Slc3a1^m1Crl
Spontaneous Allele Detail

Summary

• Symbol: Slc3a1^m1Crl
• Name: solute carrier family 3, member 1; mutation 1, Charles River Laboratories
• MGI ID: MGI:5707297
• Gene: Slc3a1 Location: Chr17:85335804-85371664 bp, + strand Genetic Position: Chr17, 55.17 cM
• Alliance: Slc3a1^m1Crl page

Mutation origin

• Strain of Origin: 129S2/SvPasCrl

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Single point mutation
• Mutation details: A spontaneous G-to-A point mutation in exon 7 results in the amino acid substitution of glutamic acid with lysine at position 383 (p.E383K). This mutation is not present in 129S1/Sv or 129S2/SvPas mice. Western blot analysis confirmed the absence of protein expression in the kidney cortex. (J:219017)

Disease models

Expression

In Structures Affected by this Mutation:

6 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 Slc3a1 Mutation: 37 strains or lines available

References

• Original: J:219017 Livrozet M, et al., An animal model of type A cystinuria due to spontaneous mutation in 129S2/SvPasCrl mice. PLoS One. 2014;9(7):e102700
• All: 1 reference(s)