Fam20b^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Fam20b^m1Btlr
• Name: FAM20B, glycosaminoglycan xylosylkinase; mutation 1, Bruce Beutler
• MGI ID: MGI:6761288
• Synonyms: Fam20b^W224R
• Gene: Fam20b Location: Chr1:156506102-156546656 bp, - strand Genetic Position: Chr1, 67.71 cM
• Alliance: Fam20b^m1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Hypomorph)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis produced an A-to-T point mutation that results in the amino acid substitution of tryptophan to arginine at position 224 (p.W224R). (J:309727)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

2 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 Fam20b Mutation: 29 strains or lines available

References

• Original: J:309727 Rios JJ, et al., Germline Saturation Mutagenesis Induces Skeletal Phenotypes in Mice. J Bone Miner Res. 2021 Aug;36(8):1548-1565
• All: 1 reference(s)