Htra2^mnd2
Spontaneous Allele Detail

Summary

• Symbol: Htra2^mnd2
• Name: HtrA serine peptidase 2; motor neuron degeneration 2
• MGI ID: MGI:1856960
• Synonyms: mnd2
• Gene: Htra2 Location: Chr6:83028247-83031552 bp, - strand Genetic Position: Chr6, 35.94 cM
• Alliance: Htra2^mnd2 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: The mutation in the mnd2 mouse has been identified as an A-to-T transversion that causes a Ser276Cys change in the protease domain of the protein. This mutation has no effect on mRNA or protein concentrations. However, enzyme assays reveal that the serine protease activity of this protein is lost. (J:85268)
• Inheritance: Recessive

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Htra2 Mutation: 20 strains or lines available

References

• Original: J:12780 Jones JM, et al., mnd2: a new mouse model of inherited motor neuron disease. Genomics. 1993 Jun;16(3):669-77
• All: 20 reference(s)