CByJ(Cg)-Zfp24^hmcns-2J/GrsrJ

Stock number: 022138
Research areas: Cell Biology Research, Neurobiology Research

Description

This spontaneous frameshift, predicted to modify only the last of the four zinc finger domains in ZFP191, is valuable in the study of the transcriptional regulation in oligodendrocytes that is essential for myelination of axons in the central nervous system.

Detailed description

Mice homozygous for the Zfp191^hmcns-2J mutation have very little myelin in the central nervous system when assessed at four weeks of age, but no myelin deficiency in the peripheral nervous system. Homozygotes can be identified as early as fourteen days of age by a whole body tremor that is most pronounced when the mouse is moving. Both males and females have tonic seizures. The severity of the tremors becomes more pronounced as they age and they do not survive beyond four to five weeks of age. Because of this, this strain must be maintained using heterozygous breeders. A hearing deficit, which varies in expressivity, has also been attributed to this mutation in this strain.

Development

A spontaneous, dominant mutation causing head tossing arose in the strain CByJ.129P2(B6)-Cd4^tm1Mak/J and this mutant subline was maintained by continuous backcross to BALB/cByJ. This removed the Cd4^tm1Mak mutation by generation N2 and at generation N7 a new mutation arose spontaneously that was subsequently characterized as the Zfp191^hmcns-2J mutation. Because this recessive Zfp191^hmcns-2J mutation causes death before breeding age this mutant subline was maintained by sibling intercrossing heterozygotes, which were proven by progeny testing. The dominant head tossing mutation was easily bred out by phenotypic selection. The CByJ(Cg)-Zfp191^hmcns-2J/GrsrJ strain reached generation +F3 in 2013.

Allele

Symbol: Zfp24^hmcns-2J
Name: hypomyelinated central nervous system 2 Jackson
MGI accession ID: MGI:5472018
Generation method: Spontaneous
Marker symbol: Zfp24
Marker name: zinc finger protein 24
Marker synonyms: 3526401F17Rik; 5033419P20Rik; KOX17; RSG-A; ZF-12; Zfp191; ZNF191; Znf24; ZSCAN3
Chromosome: 18
Strain of origin: BALB/cByJ
Molecular note: This spontaneous two base pair deletion in Chromosome 18 postitions 24,014,204 and 24,014,205 (GRCm38), which falls within exon 4, causes a frameshift that results in the substitution of 20 new amino acids in place of the last 18 amino acids of this 368 residue protein, thereby altering the last of four zinc finger domains.