Lrp4^mdig-3J
Spontaneous Allele Detail

Summary

• Symbol: Lrp4^mdig-3J
• Name: low density lipoprotein receptor-related protein 4; malformed digits 3 Jackson
• MGI ID: MGI:5688522
• Gene: Lrp4 Location: Chr2:91287856-91344124 bp, + strand Genetic Position: Chr2, 50.63 cM
• Alliance: Lrp4^mdig-3J page

Mutation origin

• Strain of Origin: B6.129-Reg3g^tm1.1Lvh/J

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Single point mutation
• Mutation details: A spontaneous C-to-T transition at chromosome 2 position 91,492,644 bp (GRCm38) changes amino acid 1158 from arginine to tryptophan (p.R1158W) in the third beta-propeller domain. (J:222308, J:224655)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Lrp4 Mutation: 98 strains or lines available

References

• Original: J:224655 Harris BS, et al., The malformed digits 3 Jackson mutation. MGI Direct Data Submission. 2015
• All: 2 reference(s)