129S6.CBA(B6)-Del(1)1Brk Gpi1^b/Gpi1^c/BrkMdfJ

Stock number: 005730
Product name: nm1054
Research areas: Dermatology Research, Hematological Research, Internal/Organ Research, Reproductive Biology Research

Description

This strain carries a Chromosome 1 deletion and is segregating for Gpi1^b from C57BL/6.

Detailed description

Homozygous mice develop microcytic anemia, sparse hair, enlarged spleens and a slight cardiomegaly. Males are infertile. Homozygous mice on the C57BL/6J background develop hydrocephalus and less than 5% survive beyond 6 days. On the 129 background, 95% of mice survive to adulthood.

Development

This spontaneous mutation arose on a CBA/J mouse from the The Jackson Laboratory in 1982 and was designated nm1054. nm1054 was transferred to the laboratory of Dr. Jane Barker (Jackson) and backcrossed to C57BL/6J for 15 generations. Dr. Mark Fleming (Children's Hospital, Boston) received the colony in 2001 and backcrossed it to 129S6/SvEvTac for 11 generations. The Gpi1^b allele from C57BL/6 is present in the strain, however it is not homozygous. Gpi1^c is carried by the 129S6 substrain. The Jackson Laboratory imported this strain in 2006.

Allele

Symbol: Del(1)1Brk
Name: deletion, Chr 1, Jane Barker 1
MGI accession ID: MGI:3608909
Generation method: Spontaneous
Marker symbol: Del(1)1Brk
Marker name: deletion, Chr 1, Jane Barker 1
Chromosome: 1
Strain of origin: CBA/J
Molecular note: This spontaneous deletion comprises approximately 400 kb and removes all or part of six genes at about 63.1-64.1 cM on Chr 1.
General note: A transgene comprising the bacterial artificial chromosome (BAC) RPCI-22 11D19, containing Steap3 and C1ql2, restored normal hemoglobin levels in mice homozygous for the deletion. Three overlapping BAC transgenes encompassing the rest of the deletion region failed to affect the phenotype, as did a truncated transgene derived from RPCI-22 11D19 that contained only C2ql2. J:103440

The anemia phenotype of the homozygous mice is recapitulated by a targeted mutation of Steap3, which also fails to complement the deletion in trans. The phenotype of the complex heterozygote is described above. J:103440

Allele

Symbol: Gpi1^b
Name: b variant
MGI accession ID: MGI:2177270
Generation method: Not Applicable
Marker symbol: Gpi1
Marker name: glucose phosphate isomerase 1
Chromosome: 7
Strain of origin: Not Applicable
Molecular note: This allele determines a faster migrating variant of the encoded enzyme and occurs in the wild and in strains BUB/Bn, CBA/J, CBA/CaJ, C3H/HeH, C3Heb/FeJ, C57BL/6J, C57BL/6J-ob, SEA/GJ and SWR/J. Sequencing analysis identified four nucleotide differences between this allele and Gpi1^a. Two differences were silent, while a third difference at nucleotide position 282 predicts an aspartate for the a allele and an asparagine for the b allele at amino acid position 94. A fourth difference in the 3' untranslated region was also noted.

Allele

Symbol: Gpi1^c
Name: c variant
MGI accession ID: MGI:2177272
Generation method: Not Applicable
Marker symbol: Gpi1
Marker name: glucose phosphate isomerase 1
Chromosome: 7
Strain of origin: wild
Molecular note: This allele determines a fast migrating variant of the encoded enzyme and occurs in the wild.

Allele

MGI accession ID: MGI:1920426
Marker symbol: 3110040M04Rik
Marker name: RIKEN cDNA 3110040M04 gene
Chromosome: 1

Allele

MGI accession ID: MGI:3642402
Marker symbol: Gm9931
Marker name: predicted gene 9931
Chromosome: 1

Allele

MGI accession ID: MGI:1195256
Marker symbol: Pla2g4a
Marker name: phospholipase A2, group IVA (cytosolic, calcium-dependent)
Chromosome: 1

Allele

MGI accession ID: MGI:2443035
Marker symbol: Brinp3
Marker name: bone morphogenetic protein/retinoic acid inducible neural specific 3
Chromosome: 1

Allele

MGI accession ID: MGI:1922066
Marker symbol: Tpr
Marker name: translocated promoter region, nuclear basket protein
Chromosome: 1

Allele

MGI accession ID: MGI:2685047
Marker symbol: Hmcn1
Marker name: hemicentin 1
Chromosome: 1

Allele

MGI accession ID: MGI:97798
Marker symbol: Ptgs2
Marker name: prostaglandin-endoperoxide synthase 2
Chromosome: 1

Allele

MGI accession ID: MGI:2385108
Marker symbol: Odr4
Marker name: odr4 GPCR localization factor homolog
Chromosome: 1

Allele

MGI accession ID: MGI:1914125
Marker symbol: Swt1
Marker name: SWT1 RNA endoribonuclease homolog (S. cerevisiae)
Chromosome: 1

Allele

MGI accession ID: MGI:1891344
Marker symbol: Prg4
Marker name: proteoglycan 4 (megakaryocyte stimulating factor, articular superficial zone protein)
Chromosome: 1

Allele

MGI accession ID: MGI:98090
Marker symbol: Pdc
Marker name: phosducin
Chromosome: 1

Allele

MGI accession ID: MGI:2152389
Marker symbol: Ivns1abp
Marker name: influenza virus NS1A binding protein
Chromosome: 1