Large1^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Large1^m1Btlr
• Name: LARGE xylosyl- and glucuronyltransferase 1; mutation 1, Bruce Beutler
• MGI ID: MGI:6725092
• Synonyms: Large1^Q359X
• Gene: Large1 Location: Chr8:73541227-74080164 bp, - strand Genetic Position: Chr8, 35.08 cM, cytoband C1
• Alliance: Large1^m1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis produced a G to A point mutation that results in the amino acid substitution of glutamine with a stop codon at position 359 (Q59*). (J:307652)
• Inheritance: Recessive

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Large1 Mutation: 123 strains or lines available

References

• Original: J:307652 Rios JJ, et al., Saturation mutagenesis defines novel mouse models of severe spine deformity. Dis Model Mech. 2021 Jun 1;14(6):dmm048901
• All: 1 reference(s)