Agxt^tm1Ull
Targeted Allele Detail

Summary

• Symbol: Agxt^tm1Ull
• Name: alanine-glyoxylate aminotransferase; targeted mutation 1, Eduardo C Salido
• MGI ID: MGI:3526219
• Synonyms: AgtKO
• Gene: Agxt Location: Chr1:93062962-93073143 bp, + strand Genetic Position: Chr1, 47.0 cM
• Alliance: Agxt^tm1Ull page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:117145
• Parent Cell Line: JM-1 (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A neomycin resistance gene was used to replace exons 4-8 of the locus. Absence of protein was confirmed by Western blot analysis. (J:117145)

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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hm1  Disease Model	Agxt^tm1Ull/Agxt^tm1Ull	B6.129X1-Agxt^tm1Ull
hm2	Agxt^tm1Ull/Agxt^tm1Ull	involves: 129X1/SvJ * C57BL/6
hm3  Disease Model	Agxt^tm1Ull/Agxt^tm1Ull	involves: 129X1/SvJ * C57BL/6J
cx4	Agxt^tm1Ull/Agxt^tm1Ull Prodh2^em1Jkni/Prodh2^em1Jkni	involves: 129X1/SvJ * C57BL/6J

Phenotypes:

Affected Systems	hm1	hm2	hm3	cx4
show or hide all annotated terms
homeostasis/metabolism	√	√	√	√
abnormal urine homeostasis				√
hyperoxaluria	√		√	√
crystalluria	√
increased physiological sensitivity to xenobiotic		√
renal/urinary system	√	√	√	√
abnormal urine homeostasis				√
hyperoxaluria	√		√	√
crystalluria	√
nephrocalcinosis	√	√
urolithiasis	√
decreased creatinine clearance	√
kidney failure	√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm1	hm3
primary hyperoxaluria type 1 IDs primary hyperoxaluria type 1       DOID:0111670 MESH:C536414 NCI:C123212 OMIM:259900 ORDO:93598 UMLS_CUI:C0268164 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: 0 strains available Cell Lines: 0 lines available
• Carrying any Agxt Mutation: 16 strains or lines available

References

• Original: J:117145 Salido EC, et al., Alanine-glyoxylate aminotransferase-deficient mice, a model for primary hyperoxaluria that responds to adenoviral gene transfer. Proc Natl Acad Sci U S A. 2006 Nov 28;103(48):18249-54
• All: 11 reference(s)