Hmx1^mpe
Spontaneous Allele Detail

Summary

• Symbol: Hmx1^mpe
• Name: H6 homeobox 1; misplaced ears
• MGI ID: MGI:3807082
• Gene: Hmx1 Location: Chr5:35546452-35557074 bp, + strand Genetic Position: Chr5, 18.14 cM
• Alliance: Hmx1^mpe page

Hmx1^mpe/Hmx1^mpe mouse

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C3H/HeJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: An 8 base pair deletion in the region of exon 2, which encodes the homeodomain, results in a frameshift beginning at amino acid 226 that is predicted to replace the C-terminal 106 amino acids with an anomalous 171 amino acids. (J:147782)
• Inheritance: Recessive

Disease models

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Hmx1 Mutation: 9 strains or lines available

References

• Original: J:147782 Monroe RJ, et al., Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial abnormalities and reduced body mass. BMC Dev Biol. 2009;9(1):27
• All: 1 reference(s)