C3H/HeJ-Hmx1^mpe/J

Stock number: 008676
Research areas: Developmental Biology Research, Mouse/Human Gene Homologs

Description

Mice homozygous for the misplaced ears mutation have low set, laterally protruding ears. Fewer homozygotes than standard Mendelian genetics predicts are produced from heterozygous intercrosses. This strain is a model for oculo-auricular syndrome.

Detailed description

Mice homozygous for the misplaced ears mutation have low set, laterally protruding ears. Fewer homozygotes than standard Mendelian genetics predicts are produced from heterozygous intercrosses. This strain is a model for oculo-auricular syndrome.

Development

The misplaced ears mutation arose spontaneously on the C3H/HeJ background at The Jackson Laboratory in 1998 and has been maintained on this inbred background since that time.

Allele

Symbol: Hmx1^mpe
Name: misplaced ears
MGI accession ID: MGI:3807082
Generation method: Spontaneous
Marker symbol: Hmx1
Marker name: H6 homeobox 1
Marker synonyms: H6; Nkx5-3
Chromosome: 5
Strain of origin: C3H/HeJ
Molecular note: 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.