Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Mutant Stock; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation F2pN1   Donating Investigator Luanne Peters,   The Jackson Laboratory

Control Information

	Control
	Wild-type from the colony
	101045 B6129SF2/J	(approximate)
Considerations for Choosing Controls

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Slc4a1^tm1Llp/Slc4a1^tm1Llp

        involves: 129S4/SvJae * C57BL/6J

• lethality-postnatal
• postnatal lethality (MGI Ref ID J:35487)
  • 85% of animals die within two weeks of birth
• growth/size phenotype
• postnatal growth retardation (MGI Ref ID J:35487)
  • noted in animals surviving to adulthood
• hematopoietic system phenotype
• abnormal hematopoiesis (MGI Ref ID J:35487)
• abnormal red blood cell (MGI Ref ID J:35487)
• abnormal erythrocyte morphology (MGI Ref ID J:35487)
  • nucleated erythroid cells are found in circulation
• abnormal erythrocyte cell number (MGI Ref ID J:35487)
• decreased erythrocyte cell number (MGI Ref ID J:35487)
• abnormal mean corpuscular volume (MGI Ref ID J:35487)
  • decreased mean corpuscular volume
• decreased mean corpuscular volume (MGI Ref ID J:35487)
• hyperchromasia (MGI Ref ID J:35487)
• microcytosis (MGI Ref ID J:35487)
• poikilocytosis (MGI Ref ID J:35487)
• polychromatophilia (MGI Ref ID J:35487)
• spherocytosis (MGI Ref ID J:35487)
• abnormal mean corpuscular hemoglobin (MGI Ref ID J:35487)
  • decreased hemoglobin content
• decreased hematocrit (MGI Ref ID J:35487)
• decreased hemoglobin content (MGI Ref ID J:35487)
• microcytic anemia (MGI Ref ID J:35487)
  • severe hemolytic anemia noted in animals surviving to adulthood
• absent erythroid progenitor cell (MGI Ref ID J:85321)
  • incomplete penetrance; reticulocytes are seen in only 2 of 12 newborn mice tested
• reticulocytosis (MGI Ref ID J:35487)
• abnormal proerythroblast morphology (MGI Ref ID J:85322)
  • presence of binucleated erythroblasts; 4% of mice compared to < 1% of wild-type mice
• reticulocytosis (MGI Ref ID J:35487)
• enlarged spleen (MGI Ref ID J:35487)
  • spleens are 15 times larger in homozygotes than in littermates
• immune system phenotype
• abnormal immune system organ morphology (MGI Ref ID J:35487)
• enlarged spleen (MGI Ref ID J:35487)
  • spleens are 15 times larger in homozygotes than in littermates
• skin/coat/nails phenotype
• pallor (MGI Ref ID J:35487)
  • pale appearace noted at birth

Slc4a1^tm1Llp/Slc4a1^tm1Llp

        B6;129S4-Slc4a1^tm1Llp/J

• lethality-postnatal
• postnatal lethality (MGI Ref ID J:120610)
  • more than 90% die within the first week after birth; those that survive the firsts week reach adulthood
• growth/size phenotype
• decreased body size (MGI Ref ID J:120610)
• decreased body weight (MGI Ref ID J:120610)
  • body weight is reduced to 50% and 55% of wild-type at 1-3 days of age and 1 week of age, respectively
• hematopoietic system phenotype
• decreased hematocrit (MGI Ref ID J:120610)
  • hematocrit drops to 18% compared to 48% in wild-type
• hemolytic anemia (MGI Ref ID J:120610)
  • severe
• spherocytosis (MGI Ref ID J:120610)
• cardiovascular system phenotype
• abnormal heart shape (MGI Ref ID J:120610)
  • hearts are misshapen
• cardiac hypertrophy (MGI Ref ID J:120610)
  • heart weight-to-body weight ratio is increased by abut 50%, indicating cardiac hypertrophy
• cardiac interstitial fibrosis (MGI Ref ID J:120610)
  • disperse interstitial fibrosis, manifested by an increase in collagen deposition and thickness of collagen fibers, in the left ventricle; fibrosis is not seen in the right ventricle
• decreased ventricle muscle contractility (MGI Ref ID J:120610)
  • ventricle dilation in both the systolic and diastolic phases, an increase in the left ventricular end-diastolic dimension and end-systolic dimension, and a 2-fold decrease in shortening fraction
• dilated left ventricle (MGI Ref ID J:120610)
• increased heart rate (MGI Ref ID J:120610)
• muscle phenotype
• decreased ventricle muscle contractility (MGI Ref ID J:120610)
  • ventricle dilation in both the systolic and diastolic phases, an increase in the left ventricular end-diastolic dimension and end-systolic dimension, and a 2-fold decrease in shortening fraction
• skin/coat/nails phenotype
• pallor (MGI Ref ID J:120610)
  • pale at birth, particularly in the prominent white abdominal band

View Research Applications

Research Applications

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

Slc4a1^tm1Llp related

Hematological Research
Anemia, Iron Deficiency and Transport Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol		Slc4a1tm1Llp
Allele Name		targeted mutation 1, Luanne L Peters
Allele Type		Targeted (knock-out)
Common Name(s)		AE1-/-;
Mutation Made By		Luanne Peters,   The Jackson Laboratory
Strain of Origin		129S4/SvJae
ES Cell Line Name		J1
ES Cell Line Strain		129S4/SvJae
Gene Symbol and Name		Slc4a1, solute carrier family 4 (anion exchanger), member 1
Chromosome		11
Gene Common Name(s)		AE1; Ae1; BND3; CD233; DI; EMPB3; EPB3; Empb3; FR; MGC116750; MGC116753; MGC126619; MGC126623; MGC93554; RTA1A; SW; WD; WD1; WR; anion exchanger 1; band 3; erythrocyte membrane protein band 3; l11Jus51; lethal, Chr 11, Justice 51;
General Note		In homozygotes for this and other targeted null mutations of the AE1 gene, severe spherocytosis and hemolysis (J:35487, J:35637) result from loss of erythrocyte membrane components, but the membrane skeleton is intact. Glycophorin A, the major transmembrane sialoglycoprotein of the erythrocyte, contributes to the expression of blood group antigens, and serves other erythrocyte membrane functions. It is never incorporated into red blood cell membranes of null mutant homozygotes (J:46738).
Molecular Note		Sequence from the within the 3' region of exon 9 to the middle of exon 11 was deleted by the insertion of a neomycin selection cassette. An absence of transcript was determined by Northern blot analysis of reticulocyte RNA derived from newborns and fetalliver RNA, both obtained from homozygous mutant mice. Western analysis and immunohistochemical analysis showed an absence of the encoded protein in homozygous mutant animals. [MGI Ref ID J:35487]

Genotyping

Genotyping Information

Genotyping Protocols

Slc4a1^tm1Llp, STD PCR, vers. 1

Helpful Links

Optimizing PCR Protocols

References

References

Selected Reference(s)

Peters LL; Shivdasani RA; Liu SC; Hanspal M; John KM; Gonzalez JM; Brugnara C; Gwynn B; Mohandas N; Alper SL; Orkin SH; Lux SE. 1996. Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton. Cell 86(6):917-27. [PubMed: 8808627]  [MGI Ref ID J:35487]

Additional References

Slc4a1^tm1Llp related

Akel A; Wagner CA; Kovacikova J; Kasinathan RS; Kiedaisch V; Koka S; Alper SL; Bernhardt I; Wieder T; Huber SM; Lang F. 2007. Enhanced suicidal death of erythrocytes from gene-targeted mice lacking the Cl-/HCO(3)(-) exchanger AE1. Am J Physiol Cell Physiol 292(5):C1759-67. [PubMed: 17251326]  [MGI Ref ID J:125834]

Alvarez BV; Kieller DM; Quon AL; Robertson M; Casey JR. 2007. Cardiac hypertrophy in anion exchanger 1-null mutant mice with severe hemolytic anemia. Am J Physiol Heart Circ Physiol 292(3):H1301-12. [PubMed: 17056673]  [MGI Ref ID J:120610]

Hassoun H; Hanada T; Lutchman M; Sahr KE; Palek J; Hanspal M; Chishti AH. 1998. Complete deficiency of glycophorin A in red blood cells from mice with targeted inactivation of the band 3 (AE1) gene. Blood 91(6):2146-51. [PubMed: 9490702]  [MGI Ref ID J:46738]

Hassoun H; Wang Y; Vassiliadis J; Lutchman M; Palek J; Aish L; Aish IS; Liu SC; Chishti AH. 1998. Targeted inactivation of murine band 3 (AE1) gene produces a hypercoagulable state causing widespread thrombosis in vivo. Blood 92(5):1785-92. [PubMed: 9716609]  [MGI Ref ID J:106667]

Jensen LJ; Stuart-Tilley AK; Peters LL; Lux SE; Alper SL; Breton S. 1999. Immunolocalization of AE2 anion exchanger in rat and mouse epididymis. Biol Reprod 61(4):973-80. [PubMed: 10491632]  [MGI Ref ID J:58027]

Peters LL. 1998. Failure of effective reticulocytosis in a new spontaneous band 3 deficient mouse strain (C3H/HeJ-wan) and in a subset of targeted band 3 null mice (B6,129 AE1-/-) suggests the presence of genetic modifiers of band 3 function in red blood cells. Blood 92(Suppl 1):301.  [MGI Ref ID J:85321]

Salomao M; Zhang X; Yang Y; Lee S; Hartwig JH; Chasis JA; Mohandas N; An X. 2008. Protein 4.1R-dependent multiprotein complex: new insights into the structural organization of the red blood cell membrane. Proc Natl Acad Sci U S A 105(23):8026-31. [PubMed: 18524950]  [MGI Ref ID J:137154]

Southgate CD; Chishti AH; Mitchell B; Yi SJ; Palek J. 1996. Targeted disruption of the murine erythroid band 3 gene results in spherocytosis and severe haemolytic anaemia despite a normal membrane skeleton. Nat Genet 14(2):227-30. [PubMed: 8841202]  [MGI Ref ID J:35637]

Health & husbandry

Health & Colony Maintenance Information

Colony Maintenance

Diet Information	LabDiet® 5K52/5K67

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.

Supply Notes

Cryorecovery - Standard. At least two mice that carry the mutation (if it is a mutant strain) will be provided. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotypes and genders are needed. IMPORTANT NOTE: The genotypes of the animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire for possible genotypes for this specific strain. Animals typically ship within 13 to 16 weeks from your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will typically ship within 25 weeks. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 or 1-207-288-5845. This strain is included in the Induced Mutant Resource Colony collection. Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Wild-type from the colony
	101045 B6129SF2/J	(approximate)
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

General Terms and Conditions

See Terms of Use

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.

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Contact Information
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Fax: 207.288.6150
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Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries

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phone:	207-288-6470
fax:	207-288-6655

JAX^® Mice & Services Conditions of Use

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