This strain carries a Chromosome 1 deletion and is segregating for Gpi1b from C57BL/6.
Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Not Applicable | Gpi1 | glucose phosphate isomerase 1 |
Allele Type | Gene Symbol | Gene Name |
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Not Applicable | Gpi1 | glucose phosphate isomerase 1 |
Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Del(1)1Brk | deletion, Chr 1, Jane Barker 1 |
Marker Symbol | Marker Name | |
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Ptgs2 | prostaglandin-endoperoxide synthase 2 | |
Prg4 | proteoglycan 4 (megakaryocyte stimulating factor, articular superficial zone protein) | |
Swt1 | SWT1 RNA endoribonuclease homolog (S. cerevisiae) | |
Hmcn1 | hemicentin 1 | |
Odr4 | odr4 GPCR localization factor homolog | |
Gm9931 | predicted gene 9931 | |
Tpr | translocated promoter region, nuclear basket protein | |
Pdc | phosducin | |
Pla2g4a | phospholipase A2, group IVA (cytosolic, calcium-dependent) | |
Ivns1abp | influenza virus NS1A binding protein | |
3110040M04Rik | RIKEN cDNA 3110040M04 gene | |
Brinp3 | bone morphogenetic protein/retinoic acid inducible neural specific 3 |
This strain is segregating Gpi1b from C57BL/6.
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.
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 Gpi1b allele from C57BL/6 is present in the strain, however it is not homozygous. Gpi1c is carried by the 129S6 substrain. The Jackson Laboratory imported this strain in 2006.
Allele Name | b variant |
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Allele Type | Not Applicable |
Allele Synonym(s) | |
Gene Symbol and Name | Gpi1, glucose phosphate isomerase 1 |
Gene Synonym(s) | |
Strain of Origin | Not Applicable |
Chromosome | 7 |
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 Gpi1a. 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 Name | c variant |
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Allele Type | Not Applicable |
Allele Synonym(s) | |
Gene Symbol and Name | Gpi1, glucose phosphate isomerase 1 |
Gene Synonym(s) | |
Strain of Origin | wild |
Chromosome | 7 |
Molecular Note | This allele determines a fast migrating variant of the encoded enzyme and occurs in the wild. |
Allele Name | deletion, Chr 1, Jane Barker 1 |
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Allele Type | Spontaneous |
Allele Synonym(s) | Del1Brk; nm1054; Steap3nm1054 |
Gene Symbol and Name | Del(1)1Brk, deletion, Chr 1, Jane Barker 1 |
Gene Synonym(s) | |
Strain of Origin | CBA/J |
Chromosome | 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 |
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. |
Marker Synonym(s) | |
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Chromosome(s) | 1 |
Marker Synonym(s) | |
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Chromosome(s) | 1 |
Marker Synonym(s) | |
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Chromosome(s) | 1 |
Marker Synonym(s) | |
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Chromosome(s) | 1 |
Marker Synonym(s) | |
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Chromosome(s) | 1 |
Marker Synonym(s) | |
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Chromosome(s) | 1 |
Marker Synonym(s) | |
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Chromosome(s) | 1 |
Marker Synonym(s) | |
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Chromosome(s) | 1 |
Marker Synonym(s) | |
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Chromosome(s) | 1 |
Marker Synonym(s) | |
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Chromosome(s) | 1 |
Marker Synonym(s) | |
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Chromosome(s) | 1 |
Marker Synonym(s) | |
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Chromosome(s) | 1 |
Homozygous females are poor breeders and homozygous males are infertile.
When using the nm1054 mouse strain in a publication, please cite the originating article(s) and include JAX stock #005730 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Homozygous, Heterozygous or Wild-type for Del(1)1Brk, Homozygous for Gpi1 |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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