BKS.Cg-mea^J Lepr^db +/+ + Dock7^m/J

Stock number: 001192
Product name: meander tail Jackson
Research areas: Dermatology Research, Developmental Biology Research, Diabetes and Obesity Research, Endocrine Deficiency Research, Immunology, Inflammation and Autoimmunity Research, Internal/Organ Research, Metabolism Research, Mouse/Human Gene Homologs, Neurobiology Research, Reproductive Biology Research

Description

These mice carry the meander tail-J (mea^J) spontaneous mutation along with the segregating diabetes (Lepr^db) and misty (Dock7^m) mutations.

Detailed description

Mice homozygous for the meander tail-J spontaneous mutation (mea^J) have variably shortened and kinked tails. At about two weeks an unsteadiness of gait, often amounting to a tremor, appears. Homozygous mutant mice are smaller and less vigorous than wild-type controls but are fertile. The anterior lobe of the cerebellum is disorganized. Purkinje cells are scattered, some cellular layers never form, and Bergmann glial processes are absent. The cytoarchitecture of the posterior lobe is normal, and the transition from normal to disorganized areas is sharply demarcated. This mutation occurred in the BKS.Cg-Lepr^db +/+ Dock7^m strain so it is also segregating for the diabetes (Lepr^db) and misty (Dock7^m) mutations. See strain description for Stock No. 000642 for more information.

Allele

Symbol: mea^J
Name: meander tail Jackson
MGI accession ID: MGI:1856076
Generation method: Spontaneous
Marker symbol: mea
Marker name: meander tail
Chromosome: 4
Strain of origin: BKS.Cg-Dock7^m +/+ Lepr^db
Molecular note: This allele was identified from the results of a noncomplementation test with mea, meander tail. The molecular lesion is unknown.

Allele

Symbol: Dock7^m
Name: misty
MGI accession ID: MGI:1856946
Generation method: Spontaneous
Synonyms: m
Marker symbol: Dock7
Marker name: dedicator of cytokinesis 7
Marker synonyms: 3110056M06Rik; DEE23; EIEE23; LOC242555; m; mKIAA1771; ZIR2
Chromosome: 4
Strain of origin: DBA/J
Molecular note: Crosses between mice homozygous for misty and for moonlight, which mapped to overlapping critical regions on Chr 4, demonstrated failure of the two mutations to complement one another. Once moonlight had been identified as a mutation of Dock7 (Dock7^mnlt), sequence analysis of this gene from misty mice revealed a retrotransposon LTR insertion following nucleotide 2045 (numbering from the A of the transcription initiation codon) that interrupts exon 18 and shifts the reading frame after codon 682 so that ten incorrect amino acids are incorporated into the protein before its premature termination.

Allele

Symbol: Lepr^db
Name: diabetes
MGI accession ID: MGI:1856009
Generation method: Spontaneous
Synonyms: db; db/db; Lep^db; Lepr-; Lepr^db-1J; leprdb
Marker symbol: Lepr
Marker name: leptin receptor
Marker synonyms: CD295; Fa; LEP-R; Leprb; LEPRD; LEPROT; leptin receptor gene-related protein; Modb1; obese-like; obl; Obr; OB-R; OB-RGRP
Chromosome: 4
Strain of origin: C57BLKS/J
Molecular note: An intronic G-to-T transversion in this allele created a donor splice site that causes abnormal splicing and the inclusion of 106 nt of intronic sequence in the transcript, leading to premature termination of the long cellular domain of the Ob-Rb splice form and loss of its signal transducing function.
General note:

Phenotypic Similarity to Human Syndrome: Gestational Diabetes J:219658