Overview

Also Known As:nm1054

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

Genetic overview

Genetic Background	Generation

Gpi1^b

Allele Type	Gene Symbol	Gene Name
Not Applicable	Gpi1	glucose phosphate isomerase 1

Gpi1^c

Allele Type	Gene Symbol	Gene Name
Not Applicable	Gpi1	glucose phosphate isomerase 1

Del(1)1Brk

Allele Type	Gene Symbol	Gene Name
Spontaneous	Del(1)1Brk	deletion, Chr 1, Jane Barker 1

Marker(s)

	Marker Symbol	Marker Name
	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

View Genetics

Research Applications

Hematological Research
Internal/Organ Research
Reproductive Biology Research
Dermatology Research

View All Research Applications

Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Important Note

This strain is segregating 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.

Selected References

Ohgami RS; Campagna DR; Antiochos B; Wood EB; Sharp JJ; Barker JE; Fleming MD. 2005. nm1054: a spontaneous, recessive, hypochromic, microcytic anemia mutation in the mouse. Blood 106(10):3625-31PubMed: 15994289 MGI: J:100202

View All References

Genetics

Gpi1^b

Allele Symbol: Gpi1^b

Allele Name	b variant
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 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.

Gpi1^c

Allele Symbol: Gpi1^c

Allele Name	c variant
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.

Del(1)1Brk

Allele Symbol: Del(1)1Brk

Allele Name	deletion, Chr 1, Jane Barker 1
Allele Type	Spontaneous
Allele Synonym(s)	Del1Brk; nm1054; Steap3^nm1054
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.

Ptgs2

Marker Symbol: Ptgs2

Marker Synonym(s)
Chromosome(s)	1

Prg4

Marker Symbol: Prg4

Marker Synonym(s)
Chromosome(s)	1

Swt1

Marker Symbol: Swt1

Marker Synonym(s)
Chromosome(s)	1

Hmcn1

Marker Symbol: Hmcn1

Marker Synonym(s)
Chromosome(s)	1

Odr4

Marker Symbol: Odr4

Marker Synonym(s)
Chromosome(s)	1

Gm9931

Marker Symbol: Gm9931

Marker Synonym(s)
Chromosome(s)	1

Tpr

Marker Symbol: Tpr

Marker Synonym(s)
Chromosome(s)	1

Pdc

Marker Symbol: Pdc

Marker Synonym(s)
Chromosome(s)	1

Pla2g4a

Marker Symbol: Pla2g4a

Marker Synonym(s)
Chromosome(s)	1

Ivns1abp

Marker Symbol: Ivns1abp

Marker Synonym(s)
Chromosome(s)	1

3110040M04Rik

Marker Symbol: 3110040M04Rik

Marker Synonym(s)
Chromosome(s)	1

Brinp3

Marker Symbol: Brinp3

Marker Synonym(s)
Chromosome(s)	1

Disease/Phenotype

Disease Terms

Characteristics of this human disease are associated with transgenes and other mutation types in the mouse.

primary ciliary dyskinesia

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Del(1)1Brk related

Hematological Research
- Anemia, Iron Deficiency and Transport Defects
  - microcytic
Internal/Organ Research
- Spleen Defects
Reproductive Biology Research
- Fertility Defects
Dermatology Research
- Skin and Hair Texture Defects

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Del(1)1Brk/Del(1)1Brk
involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6J * CBA/J

homeostasis/metabolism phenotype

abnormal iron homeostasis
- the erythrocyte zinc-to-iron protoporphyrin IX ratio of 8 week old homozygous deletant mice is approximately 2.7-fold that of wild-type mice

increased liver iron level
- the liver iron content of homozygous deletant mice at 8 weeks is approximately 3-fold higher than that of wild-type mice

liver/biliary system phenotype

increased liver iron level
- the liver iron content of homozygous deletant mice at 8 weeks is approximately 3-fold higher than that of wild-type mice

hematopoietic system phenotype

abnormal reticulocyte morphology
- reticulocytes of 8 week old homozygous deletant mice contain less than half the cellular hemoglobin of those from wild-type mice

anisopoikilocytosis
- red blood cells of homozygous deletants vary in shape and size

decreased hemoglobin content
- blood of 8 week old mice homozygous for the deletion has a hemoglobin (g/dl) content about 65% that of blood from wild-type mice

decreased hematocrit
- the hematocrit of 8 week old mice homozygous for the deletion is about 75% that of wild-type mice

reticulocytosis
- in blood of 8 week old homozygous deletant mice, both the absolute number and the proportion of reticulocytes are significantly elevated over those in blood of mice with at least one wild-type allele

decreased mean corpuscular hemoglobin concentration
- the hemoglobin concentration in red blood cells from 8 week old homozygous deletant mice is about 82% that of wild-type mice

increased erythrocyte cell number

decreased mean corpuscular hemoglobin
- red blood cells of 8 week old homozygous deletant mice contain only about 41% as much hemoglobin (pg) as RBCs of wild-type mice

abnormal erythrocyte morphology

abnormal hemoglobin

thrombocytosis
- the platelet count of 8 week old homozygous mutant mice is about 3.75 times that of wild-type mice

decreased mean corpuscular volume
- 8 week old homozygous deletant mice have a mean RBC volume approximately half that of wild-type mice

Genotype: Del(1)1Brk/Del(1)1Brk
CBA/J-Del(1)1Brk

growth/size/body region phenotype

decreased birth body size
- runted at birth

hematopoietic system phenotype

anemia

integument phenotype

pallor

reproductive system phenotype

male infertility

Genotype: Del(1)1Brk/Del(1)1Brk
involves: 129S6/SvEvTac * C57BL/6J * CBA/J

cardiovascular system phenotype

enlarged heart
- slight cardiomegaly, particularly at earlier ages, which tends to improve with age

hematopoietic system phenotype

microcytic anemia
- anemia tends to improve after 4 weeks of age

anisopoikilocytosis

abnormal erythrocyte morphology

abnormal spleen morphology

decreased hematocrit

decreased hemoglobin content
- erythrocytes are hypochromic
- hemoglobin is reduced by at least one third in all ages examined (4, 8, 12, and 24 weeks of age)

decreased mean corpuscular hemoglobin

decreased mean corpuscular hemoglobin concentration

abnormal spleen white pulp morphology
- expanded red pulp effaces the normal white pulp architecture

enlarged spleen
- splenomegaly tends to improve with age

microcytosis
- erythrocytes are microcytic

polychromatophilia

thrombocytosis

increased bone marrow cell number
- erythroid hyperplasia in the marrow

increased spleen red pulp amount
- red pulp is expanded and occupied by sheets of erythroid precursors

anisocytosis

decreased mean corpuscular volume

increased leukocyte cell number
- at all ages

reticulocytosis
- reticulocyte count is increased to variable degrees at all ages, indicating a proliferative anemia

homeostasis/metabolism phenotype

abnormal circulating iron level
- at 4 weeks of age serum iron, total iron binding concentration, and transferrin saturations are elevated, however these levels normalize over time

abnormal iron homeostasis
- an average of 31% of iron is released from cells compared to an average of 3% in controls, indicating an endosomal iron processing defect in which there is inefficient transfer of endosomal iron to the cell
- the erythrocyte zinc protoporphyrin IX to heme (Znpp/H) ratio is increased nearly 4-fold at 4 weeks of age, suggesting an iron metabolism defect
- total iron uptake in reticulocytes is decreased about 4-fold and reticulocytes incorporate much less iron into heme

abnormal iron level
- bone marrow reticuloendothelial iron is present

abnormal liver iron level
- elevated liver iron that becomes normalized over time, with iron predominately in hepatocytes rather than in Kupffer cells of the reticuloendothelial system

immune system phenotype

enlarged spleen
- splenomegaly tends to improve with age

increased spleen red pulp amount
- red pulp is expanded and occupied by sheets of erythroid precursors

increased leukocyte cell number
- at all ages

abnormal spleen white pulp morphology
- expanded red pulp effaces the normal white pulp architecture

abnormal spleen morphology

liver/biliary system phenotype

abnormal liver iron level
- elevated liver iron that becomes normalized over time, with iron predominately in hepatocytes rather than in Kupffer cells of the reticuloendothelial system

enlarged liver
- slight hepatomegaly, not due to extramedullary hematopoiesis

mammalian phenotype

nervous system phenotype
- Normal - only rarely observe hydroencephaly on the mixed 129S6/SvEvTac background

growth/size/body region phenotype
- Normal - mice do not exhibit situs inversus

mortality/aging
- Background Sensitivity - most survive to adulthood on a mixed 129S6/SvEvTac unlike on the C57BL/6J background

hearing/vestibular/ear phenotype
- Normal - mice do not exhibit otitis media

vision/eye phenotype
- Normal - mice do not exhibit retinitis pigmentosa

cellular phenotype

azoospermia
- absence of mature spermatozoa in the seminiferous tubules and in the epididymis

abnormal respiratory motile cilium physiology
- beat frequency of tracheal epithelial cilia is about 25% lower than that of wild-type cilia, indicating impaired ciliary motility
- Normal - however sinus and tracheal epithelial cells have cilia with a normal ultrastructure

absent sperm flagellum
- sperm heads are present and appear normal, however there are no visible flagella

reproductive system phenotype

testis hypoplasia

absent sperm flagellum
- sperm heads are present and appear normal, however there are no visible flagella

abnormal spermiogenesis
- defect late in spermiogenesis

azoospermia
- absence of mature spermatozoa in the seminiferous tubules and in the epididymis

male infertility

respiratory system phenotype

abnormal respiratory motile cilium physiology
- beat frequency of tracheal epithelial cilia is about 25% lower than that of wild-type cilia, indicating impaired ciliary motility
- Normal - however sinus and tracheal epithelial cells have cilia with a normal ultrastructure

abnormal respiration
- respiratory abnormalities

impaired mucociliary clearance
- accumulation of mucus in the sinuses, although no evidence of inflammation

endocrine/exocrine gland phenotype

testis hypoplasia

growth/size/body region phenotype

enlarged heart
- slight cardiomegaly, particularly at earlier ages, which tends to improve with age

enlarged liver
- slight hepatomegaly, not due to extramedullary hematopoiesis

enlarged spleen
- splenomegaly tends to improve with age

Genotype: Del(1)1Brk/Del(1)1Brk
B6.CBA-Del(1)1Brk

growth/size/body region phenotype

decreased birth body size
- runted at birth

hematopoietic system phenotype

anemia

integument phenotype

sparse hair
- particularly on dorsal surfaces

pallor

mortality/aging

postnatal lethality, incomplete penetrance
- Background Sensitivity - of the mutants that are born, most die prior to P7, with a few surviving past weaning, on the C57BL/6J background

prenatal lethality, incomplete penetrance
- significant prenatal lethality on the C57BL/6J background, as only observe 7.3% of homozygotes at birth instead of the expected 25%

nervous system phenotype

hydrocephaly
- Background Sensitivity - evident on the C57BL/6J background but not on a mixed 129S6/SvEvTac background

reproductive system phenotype

male infertility

References

Ohgami RS; Campagna DR; Antiochos B; Wood EB; Sharp JJ; Barker JE; Fleming MD. 2005. nm1054: a spontaneous, recessive, hypochromic, microcytic anemia mutation in the mouse. Blood 106(10):3625-31PubMed: 15994289 MGI: J:100202

Additional - Brinp3 related

Additional - Gpi1^b related

Additional - Gpi1^c related

Additional - Hmcn1 related

Additional - Ivns1abp related

Additional - Pdc related

Additional - Pla2g4a related

Additional - Prg4 related

Additional - Ptgs2 related

Additional - Tpr related

Additional - Del(1)1Brk related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- QPCR:Del(1)1Brk
- Genotyping resources and troubleshooting
Breeding Considerations

Homozygous females are poor breeders and homozygous males are infertile.
- Additional Breeding and Husbandry Support
Appearance
- white-bellied agouti
  Related Genotype: A^w/A^w
Citation
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.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Homozygous, Heterozygous or Wild-type for Del(1)1Brk, Homozygous for Gpi1

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

The Jackson Laboratory's Genotype Promise

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.

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

Also Known As:nm1054

Genetic overview

Marker(s)

Research Applications

Base Price

Important Note

Detailed Description

Development

Selected References

Gpi1b

Allele Symbol: Gpi1b

Gpi1c

Allele Symbol: Gpi1c

Del(1)1Brk

Allele Symbol: Del(1)1Brk

Ptgs2

Marker Symbol: Ptgs2

Prg4

Marker Symbol: Prg4

Swt1

Marker Symbol: Swt1

Hmcn1

Marker Symbol: Hmcn1

Odr4

Marker Symbol: Odr4

Gm9931

Marker Symbol: Gm9931

Tpr

Marker Symbol: Tpr

Pdc

Marker Symbol: Pdc

Pla2g4a

Marker Symbol: Pla2g4a

Ivns1abp

Marker Symbol: Ivns1abp

3110040M04Rik

Marker Symbol: 3110040M04Rik

Brinp3

Marker Symbol: Brinp3

Disease Terms

Characteristics of this human disease are associated with transgenes and other mutation types in the mouse.

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Del(1)1Brk related

Mammalian Phenotype Terms by Genotype

Genotype: Del(1)1Brk/Del(1)1Brkinvolves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6J * CBA/J

homeostasis/metabolism phenotype

liver/biliary system phenotype

hematopoietic system phenotype

Genotype: Del(1)1Brk/Del(1)1BrkCBA/J-Del(1)1Brk

growth/size/body region phenotype

hematopoietic system phenotype

integument phenotype

reproductive system phenotype

Genotype: Del(1)1Brk/Del(1)1Brkinvolves: 129S6/SvEvTac * C57BL/6J * CBA/J

cardiovascular system phenotype

hematopoietic system phenotype

homeostasis/metabolism phenotype

immune system phenotype

liver/biliary system phenotype

mammalian phenotype

cellular phenotype

reproductive system phenotype

respiratory system phenotype

endocrine/exocrine gland phenotype

growth/size/body region phenotype

Genotype: Del(1)1Brk/Del(1)1BrkB6.CBA-Del(1)1Brk

growth/size/body region phenotype

hematopoietic system phenotype

integument phenotype

mortality/aging

nervous system phenotype

reproductive system phenotype

References

Additional - Brinp3 related

Additional - Gpi1b related

Additional - Gpi1c related

Additional - Hmcn1 related

Additional - Ivns1abp related

Additional - Pdc related

Gpi1^b

Allele Symbol: Gpi1^b

Gpi1^c

Allele Symbol: Gpi1^c

Genotype: Del(1)1Brk/Del(1)1Brk
involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6J * CBA/J

Genotype: Del(1)1Brk/Del(1)1Brk
CBA/J-Del(1)1Brk

Genotype: Del(1)1Brk/Del(1)1Brk
involves: 129S6/SvEvTac * C57BL/6J * CBA/J

Genotype: Del(1)1Brk/Del(1)1Brk
B6.CBA-Del(1)1Brk

Additional - Gpi1^b related

Additional - Gpi1^c related