SB;C3Sn-Lrp4^mdig-2J/GrsrJ

Stock number: 010968
Product name: malformed digits 2 Jackson
Research areas: Cardiovascular Research, Dermatology Research, Developmental Biology Research, Hematological Research, Immunology, Inflammation and Autoimmunity Research, Internal/Organ Research, Metabolism Research, Mouse/Human Gene Homologs, Research Tools

Description

These mutant mice are characterized by missing toes and a coarse tail.

Detailed description

Mice homozygous for the Lrp4^mdig-2J mutation have toes missing from each foot, have a coarse tail, and some, but not all, have one or two extra upper incisors.

Development

The mutation malformed digits 2 Jackson (mdig-2J) arose spontaneously at The Jackson Laboratory in 2008 on the SB/LeJ inbred background, which is homozygous for the satin and beige mutations. This mutant subline was outcrossed once to C3H/HeSnJ and the resulting progeny were intercrossed. This line has been maintained since then by sibling intercrossing heterozygotes and homozygotes and the Lyst^bg and Foxq1^sa mutations have not been bred out of the line.

Allele

Symbol: Lyst^bg
Name: beige
MGI accession ID: MGI:1855968
Generation method: Radiation induced
Synonyms: 30B/22B; bg; CHS mice
Marker symbol: Lyst
Marker name: lysosomal trafficking regulator
Marker synonyms: Beige; CHS; CHS1; D13Sfk13; Mauve
Chromosome: 13
Strain of origin: C3H/Rl
Molecular note: This allele is an insertion of a partial LINE 1 repetitive element into an intron of the gene. The insertion included only the most 3' 1097 bp of the element producing a frameshift mutation resulting in a truncated protein predicted to be missing the last 1442 amino acids.

Allele

Symbol: Foxq1^sa
Name: satin
MGI accession ID: MGI:1857026
Generation method: Radiation induced
Synonyms: sa; satin
Marker symbol: Foxq1
Marker name: forkhead box Q1
Marker synonyms: Hfh1; Hfh-1; Hfh1l; sa
Chromosome: 13
Strain of origin: (101/Rl x C3H/Rl)F1
Molecular note: This allele occurred in descendants of a gamma irradiation experiment. The underlying mutation was identified as a 67 bp intragenic deletion. The deletion causes a frame shift resulting in a truncated 376 amino acid protein but does not affect the first 228 residues, including the characteristic WH DNA-binding domain. The mutant protein is predicted to bind to its DNA targets but fails at transcriptional activation or repression because the specific C-terminal domains are missing.

Allele

Symbol: Lrp4^mdig-2J
Name: malformed digits 2 Jackson
MGI accession ID: MGI:4418458
Generation method: Spontaneous
Marker symbol: Lrp4
Marker name: low density lipoprotein receptor-related protein 4
Marker synonyms: 6430526J12Rik; CLSS; CMS17; LRP10; LRP-4; mdig; MEGF7; SOST2
Chromosome: 2
Strain of origin: SB/LeJ
Molecular note: Proven allelic with Lrp4^mdig by failed complementation test.