129S-Del(10Prmt2-Pdxk)4Yey/J

Stock number: 017439
Product name: Df(10)5Yey/+
Research areas: Mouse/Human Gene Homologs, Neurobiology Research

Description

This Df(10)5Yey/+ mutant strain contains one copy of mouse Chromosome 10 with the targeted sequence deleted between, and including, the protein arginine N-methyltransferase 2 (Prmt2) gene and the pyridoxal (pyridoxine, vitamin B6) kinase (Pdxk) gene. These mice may be useful for understanding developmental and cognitive disabilities associated with Monosomy 21.

Detailed description

This Df(10)5Yey/+ mutant strain contains one copy of mouse Chromosome 10 with the targeted sequence deleted between, and including, the protein arginine N-methyltransferase 2 (Prmt2) gene and the pyridoxal (pyridoxine, vitamin B6) kinase (Pdxk) gene. Heterozygous mice are viable and fertile. This deleted region on the mouse chromosome is one of two regions orthologous to a deleted copy of human Chromosome 21 (Hsa21) which has been implicated in developmental cognitive disabilities like Down Syndrome (DS) and Monosomy 21. Dp(10)5Yey/+ lacks 41 genes on Chromosome 10 which are syntenic to the distal part of human 21q22.3, and is orthologous to genes on Hsa21. These mice exhibit Monosomy 21 related phenotypic defects including impaired contextual conditioning behavior, abnormal spatial learning, and abnormal motor coordination and balance. These mice may be useful for understanding developmental and cognitive disabilities associated with Monosomy 21.

Development

Chromosome-engineering cassettes were inserted into mouse Chromosome 10 of 129S7/SvEvBrd-Hprt1^b-m2-derived AB2.2 embryonic stem (ES) cells, bracketing a span of approximately 2.3 Mb between, and including, the protein arginine N-methyltransferase 2 (Prmt2) gene and pyridoxal (pyridoxine, vitamin B6) kinase (Pdxk) gene. The cassette placed at the proximal locus was targeted upstream of Prmt2 and contained an agouti transgene, a 3' portion of an HPRT minigene, a loxP site and puromycin resistance gene. The cassette placed at the distal locus was targeted downstream of the Pdxk gene and contained a neomycin resistance gene, a loxP site, a 5' portion of an HPRT minigene, and a tyrosinase minigene. Double-targeted ES cells were transiently transfected with the cre recombinase expression vector pOG231. After subsequent selection of recombinants by using hypoxanthine aminopterin thymidine (HAT) media, correctly targeted ES cells, containing one copy of mouse Chromosome 10 with the targeted sequence deleted (Del), were injected into C57BL/6J-Tyr^c-Brd blastocysts. The resulting chimeric males were mated to 129/SvEv females to produce a colony of Df(10)5Yey/+ mice. Upon arrival at The Jackson Laboratory these mice were bred to 129S1/SvImJ mice (Stock No. 002448) for at least one generation.

Allele

Symbol: Del(10Prmt2-Pdxk)4Yey
Name: deletion, Chr 10, Y Eugene Yu 4
MGI accession ID: MGI:4818358
Generation method: Targeted
Attributes: Null/Knockout
Marker symbol: Del(10Prmt2-Pdxk)4Yey
Marker name: deletion, Chr 10, Y Eugene Yu 4
Chromosome: 10
Strain of origin: 129S7/SvEvBrd-Hprt^b-m2
Molecular note: Cre mediated chromosomal rearrangement between loxP sites in regions proximal to Prmt2 and distal to Pdxk resulted in deletion of the genes, including Prmt2 and Pdxk, in this approximately 2.3 Mb region that is syntenic with the distal part of human 21q22.3.