Tg(SERPINA1*E342K)#Slcw
Transgene Detail

Summary

• Symbol: Tg(SERPINA1*E342K)#Slcw
• Name: transgene insertion, Savio L C Woo
• MGI ID: MGI:3847801
• Synonyms: ATZ, PiZ, Tg(SERPINA1*E342K)Z1.01Slcw, Z1.01
• Transgene: Tg(SERPINA1*E342K)#Slcw Location: unknown
• Alliance: Tg(SERPINA1*E342K)#Slcw page

Transgene origin

• Strain of Origin: (ICR x C57BL/6)F1

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(SERPINA1*E342K)#Slcw expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  SERPINA1 (5265)

  Serpina1a	(MGI:891971)
  Serpina1b	(MGI:891970)
  Serpina1c	(MGI:891969)
  Serpina1d	(MGI:891968)
  Serpina1e	(MGI:891967)

  There is a single gene in human and 5 homologs in mouse.

• Mutation details: The transgene construct contains the entire human alpha₁-antitrypsin (AAT or SERPINA1) gene encoding the Z variant allele which has a Glu->Lys substitution at position 342, plus 2.0 and 2.3 kb of 5' and 3' genomic sequences, respectively. (J:149132, J:149133)

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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tg1  Disease Model	Tg(SERPINA1*E342K)#Slcw/Tg(SERPINA1*E342K)#Slcw	involves: C57BL/6 * ICR
tg2	Tg(SERPINA1*E342K)#Slcw/0	involves: C57BL/6 * ICR

Phenotypes:

Affected Systems	tg1	tg2
show or hide all annotated terms
homeostasis/metabolism	√	√
abnormal enzyme/coenzyme level	√	√
immune system		√
liver inflammation		√
liver/biliary system	√	√
liver inflammation		√
abnormal hepatocyte morphology		√
hepatic necrosis		√
liver fibrosis	√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	tg1
alpha 1-antitrypsin deficiency IDs alpha 1-antitrypsin deficiency       DOID:13372 ICD10CM:E88.01 ICD9CM:273.4 MESH:D019896 NCI:C84397 OMIM:613490 UMLS_CUI:C0221757 Close	√

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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

References

• Original: J:149132 Carlson JA, et al., Accumulation of PiZ alpha 1-antitrypsin causes liver damage in transgenic mice. J Clin Invest. 1989 Apr;83(4):1183-90
• All: 16 reference(s)