B6N.Cg-Plp1^jp/KanMmjax

Stock number: 032600
Product name: jimpy
Research areas: Developmental Biology Research, Mouse/Human Gene Homologs, Neurobiology Research

Description

Jimpy is a spontaneous X-linked mutation in proteolipid protein (myelin) 1 gene (Plp1^jp). Males exhibit severe tremors, dysmyelination and premature death. This strain may be useful for studying hypomyelination and leukodystrophies.

Detailed description

The spontaneous mutation in the X-linked jimpy (Plp1^jp) allele has been identified as a single point mutation in the 3' end of intron 4 of the proteolipid protein (myelin) 1 gene. PLP1 is a transmembrane proteolipid protein that is the major component of myelin. Mutations in Plp1 are associated with Pelizaeus-Merzbacher disease and spastic paraplegia type 2.

The information below describes B6CBACa A^w-J/A-Plp1^jp Eda^Ta/J. The donating investigator indicates that the jimpy phenotype on the C57BL/6N background is similar to the original mixed background.

Hemizygous males carrying the X-linked jimpy spontaneous mutation (Plp1^jp) appear normal when sitting quietly, but beginning at about 3 weeks of age they show a marked tremor of the hindquarters when attempting movement. After 3 weeks of age convulsions may occur. These males die between 20 and 40 days of age. In males, the CNS is very deficient in myelin with increased numbers of dead oligodendrocytes and astrocytosis, but the PNS is normally myelinated. Heterozygous jimpy females have normal lifespans with no overt phenotype. However, jimpy heterozygous females are reported to have reduced numbers of oligodendrocytes compared to wild-type females. This strain may be useful for studying hypomyelination and leukodystrophies.

Development

The X-lined spontaneous mutation jimpy originated on a (KLM STOCK x XY STOCK)F1 in 1954. The stock was originally maintained with the closely linked tabby mutation (Eda^Ta). The allele was been outcrossed to C57BL/6J-A^w-J for many generations as well as the inbred strain CBA/Ca. The strain was transferred to the laboratory of Dr. Klaus Armin Nave at the Max Planck Institute and outcrossed to C3H/101 and separated from the Tabby allele. Since 2007, the allele has been backcrossed to C57BL/6N and reached N28 (2018). Upon arrival, mice were bred to C57BL/6NJ for at least 1 generation to establish the colony. The mutation has been identified as an A to G base change at the 3' splice acceptor site of intron 4 of the proteolipid protein (myelin) 1 gene and results in the deletion of exon 5 during RNA splicing.

 

Allele

Symbol: Plp1^jp
Name: jimpy
MGI accession ID: MGI:1856065
Generation method: Spontaneous
Synonyms: jp
Marker symbol: Plp1
Marker name: proteolipid protein (myelin) 1
Marker synonyms: DM20; GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD; SPG2
Chromosome: X
Strain of origin: (KLM STOCK x XY STOCK)F1
Molecular note: Sequence analysis showed that this allele carries an A-to-G base change at the 3' splice acceptor site of intron 4, eliminating the exon 5 splice acceptor site by changing it from ATG to TGG.