Tg(HBA-HBBs)41Paz
Transgene Detail

Summary

• Symbol: Tg(HBA-HBBs)41Paz
• Name: transgene insertion 41, Chris Paszty
• MGI ID: MGI:3056733
• Synonyms: miniLCRalpha1^Ggamma^Agammadeltabeta^S, Tg(Hu-miniLCRalpha1^Ggamma^Agammadeltabeta^S)
• Transgene: Tg(HBA-HBBs)41Paz Location: unknown
• Alliance: Tg(HBA-HBBs)41Paz page

Transgene origin

• Strain of Origin: FVB/N

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(HBA-HBBs)41Paz expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  HBA1 (3039)

  Hba-a1	(MGI:96015)
  Hba-a2	(MGI:96016)

• Mutation details: The transgene contains sequences encoding the human proteins HBA1 (hemoglobin, alpha 1), HBG2 (hemoglobin, gamma G, fetal component), HBG1 (hemoglobin, gamma A, fetal component), HBD (hemoglobin, delta), and HBB ^S (hemoglobin, beta, sickle allele), and the locus control region (LCR). The HBB^S allele contains an A to T transversion mutation in the sixth codon of HBB which causes an amino acid change from Glu to Val. The transgene promoter is multiple: from alpha and beta globin human loci. Transgenic mice express human alpha hemoglobin, gamma hemoglobin, and sickle cell hemoglobin. (J:44161)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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cx1	Hba^tm1Paz/Hba^tm1Paz Hbb^tm1Tow/Hbb^tm1Tow Tg(HBA-HBBs)41Paz/0	involves: 129 * Black Swiss * C57BL/6 * DBA/2 * FVB/N
cx2  Disease Model	Hba^tm1Paz/Hba^tm1Paz Hbb^tm1Tow/Hbb^tm1Tow Tg(HBA-HBBs)41Paz/?	involves: 129S2/SvPas * 129S7/SvEvBrd * Black Swiss * C57BL/6 * DBA/2* FVB/N

Phenotypes:

Affected Systems	cx1	cx2
show or hide all annotated terms Sex:
cardiovascular system		√
abnormal kidney vasculature morphology		√
abnormal liver vasculature morphology		√
abnormal lung vasculature morphology		√
spleen vascular congestion		√
increased heart weight		√
growth/size/body		√
increased heart weight		√
kidney cyst		√
increased kidney weight		√
increased spleen weight		√
hematopoietic system		√
spleen vascular congestion		√
increased spleen weight		√
anemia		√
abnormal erythrocyte morphology		√
decreased hematocrit		√
abnormal hemoglobin		√
decreased mean corpuscular hemoglobin		√
decreased mean corpuscular hemoglobin concentration		√
decreased mean corpuscular volume		√
anisopoikilocytosis		√
reticulocytosis		√
decreased erythrocyte osmotic fragility		√
homeostasis/metabolism		√
hypoxia		√
increased kidney iron level		√
increased liver iron level		√
immune system		√
spleen vascular congestion		√
increased spleen weight		√
liver/biliary system		√
abnormal liver vasculature morphology		√
increased liver iron level		√
mortality/aging		√
neonatal lethality, incomplete penetrance		√
renal/urinary system		√
abnormal kidney vasculature morphology		√
kidney cyst		√
increased kidney weight		√
increased kidney iron level		√
kidney atrophy		√
renal fibrosis		√
reproductive system	√
abnormal penile erection	√
priapism	√
respiratory system		√
abnormal lung vasculature morphology		√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	cx2
sickle cell anemia IDs sickle cell anemia       DOID:10923 DOID:12924 DOID:13024 ICD10CM:D57.1 ICD10CM:D57.2 ICD9CM_2006:282.63 ICD9CM:282.6 ICD9CM:282.60 ICD9CM:282.63 MESH:D000755 MESH:D006450 NCI:C34383 NCI:C34676 ORDO:232 UMLS_CUI:C0002895 UMLS_CUI:C0019034 Close	√

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available

Notes

In conjunction with Hba^tm1Paz and Hbb^tm1Tmt, transgenic mice express exclusively human sickle hemoglobin. These mice do not express mouse Hba and Hbb, but do express human HBA and HBB. Although chronically anemic, most of these mice survive for 2 to 9 months and are fertile. A significant percentage of sickle cell mice do not survive to adulthood. These mice display the major genetic, hematologic and histopathologic features found in humans with sickle cell disease: irreversibly sickled red cells, anemia, and multiorgan pathology.

References

• Original: J:44161 Paszty C, et al., Transgenic knockout mice with exclusively human sickle hemoglobin and sickle cell disease [see comments]. Science. 1997 Oct 31;278(5339):876-8
• All: 102 reference(s)