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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hoga1tm2a(KOMP)Wtsi
targeted mutation 2a, Wellcome Trust Sanger Institute
MGI:4419886
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hoga1tm2a(KOMP)Wtsi/Hoga1tm2a(KOMP)Wtsi involves: C57BL/6N MGI:5805971


Genotype
MGI:5805971
hm1
Allelic
Composition
Hoga1tm2a(KOMP)Wtsi/Hoga1tm2a(KOMP)Wtsi
Genetic
Background
involves: C57BL/6N
Cell Lines EPD0380_4_H08
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoga1tm2a(KOMP)Wtsi mutation (1 available); any Hoga1 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• on a Hyp-free diet (devoid of trans-4-hydroxy-L-proline), homozygotes of both sexes exhibit significantly higher plasma 2,4-dihydroxyglutarate (DHG) levels than wild-type controls (J:231386)
• on a Hyp-free diet, female homozygotes show higher plasma glycolate levels than male homozygotes (J:231386)
• on a 1% Hyp diet, homozygotes of both sexes show significantly higher plasma 4-hydroxy-2-oxoglutarate (HOG) and DHG levels than wild-type controls (J:231386)
• on a 1% Hyp diet, female homozygotes show a ~2-fold decrease in plasma glycolate levels relative to wild-type females (J:231386)
• on a Hyp-free diet, homozygotes of both sexes exhibit significantly higher urine DHG levels than wild-type controls (8-fold and 7-fold increase in males and females, respectively) (J:231386)
• on a 1% Hyp diet, homozygotes of both sexes show significantly higher urine HOG and DHG levels than wild-type controls (J:231386)
• homozygotes fed either a Hyp-free diet or a 1% Hyp diet do NOT exhibit hyperoxaluria relative to similarly treated wild-type controls (J:231386)
• following infusion with low levels of 13C5-15N-Hyp, homozygotes display normal urinary 13C2-oxalate and 13C2-glycolate excretions, with a similar contribution of Hyp metabolism to urinary oxalate excretion relative to wild-type controls (J:231386)
• on a 1% Hyp diet, female homozygotes show a lower increase in urine glycolate levels than wild-type females (~6-fold vs ~14-fold, respectively) (J:231386)
• on a Hyp-free diet, male homozygotes show a lower fractional clearance of glycolate than wild-type males (J:231386)
• following infusion with low levels of 13C5-15N-Hyp, urine 13C5-DHG levels are increased in male homozygotes but remain undetectable in wild-type controls, indicating that the DHG detected in wild-type mice on a Hyp-free diet is not derived from Hyp metabolism (J:231386)

liver/biliary system
• on a 1% Hyp diet, homozygotes of both sexes show significantly higher DHG levels in liver tissue than wild-type controls (J:231386)
• on a 1% Hyp diet, female homozygotes show significantly increased HOG levels in liver tissue relative to male homozygotes or wild-type controls of both sexes (J:231386)

renal/urinary system
• on a Hyp-free diet, homozygotes of both sexes exhibit significantly higher urine DHG levels than wild-type controls (8-fold and 7-fold increase in males and females, respectively) (J:231386)
• on a 1% Hyp diet, homozygotes of both sexes show significantly higher urine HOG and DHG levels than wild-type controls (J:231386)
• homozygotes fed either a Hyp-free diet or a 1% Hyp diet do NOT exhibit hyperoxaluria relative to similarly treated wild-type controls (J:231386)
• following infusion with low levels of 13C5-15N-Hyp, homozygotes display normal urinary 13C2-oxalate and 13C2-glycolate excretions, with a similar contribution of Hyp metabolism to urinary oxalate excretion relative to wild-type controls (J:231386)
• on a 1% Hyp diet, female homozygotes show a lower increase in urine glycolate levels than wild-type females (~6-fold vs ~14-fold, respectively) (J:231386)
• on a Hyp-free diet, male homozygotes show a lower fractional clearance of glycolate than wild-type males (J:231386)
• following infusion with low levels of 13C5-15N-Hyp, urine 13C5-DHG levels are increased in male homozygotes but remain undetectable in wild-type controls, indicating that the DHG detected in wild-type mice on a Hyp-free diet is not derived from Hyp metabolism (J:231386)

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
primary hyperoxaluria DOID:2977 OMIM:260000
OMIM:613616
J:231386





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory