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Phenotypes Associated with This Genotype
Genotype
MGI:2174900
Allelic
Composition
Oattm1Dva/Oattm1Dva
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Oattm1Dva mutation (0 available); any Oat mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• although apparently normal at birth, all homozygotes die 24-48 hrs after birth
• i.p. administration of L-arginine (10 mmol/kg body weight every 12 hrs, starting within hrs after birth and reduced to 2 mmol/kg/injection over the first 14 days of life) extends survival to 80%; arginine is no longer required for viability after day 14
• premature cessation of arginine treatment causes lethargy, prostate posture, rigidity, and the onset of a resting, high frequency tremor in the distal extremities and tail, culminating to death within a few hrs of birth; a single i.p. dose of arginine shortly after the onset of symptoms restores normal posture and activity within 1-3 hrs

homeostasis/metabolism
• pre-weaning (neonatal) homozygotes that have been rescued with arginine supplementation show a 20-40% reduction in several amino acids (e.g. phenylalanine), with significant reductions in plasma ornithine, arginine, and citrulline concentrations
• in contrast to neonates, post-weaning (adult) homozygotes on a standard diet exhibit severe hyperornithinemia and hypolysinemia, similar to humans with gyrate atrophy
• pre-weaning homozygotes that have been rescued with arginine supplementation exhibit a 5-fold increase in blood ammonia levels relative to wild-type mice
• pre-weaning homozygotes that have been rescued with arginine supplementation exhibit severe orotic aciduria with 145 76 mol/mmol creatinine vs <1 mol/mmol in wild-type mice

vision/eye
• at 7 months or later, rescued homozygotes exhibit a moderate (20-30%) photoreceptor loss relative to wild-type mice
• at 2 months, rescued homozygotes exhibit a slight shortening of photoreceptor outer segments
• by 7 months or later, mutant photoreceptor outer segments appear disorganized and markedly shortened, esp. in the central superior and inferior retinal regions
• at 2 months, mutant retinas display normal morphology with slight swelling of the RPE
• by 7 months or later, mutant RPE cells exhibit irregular swelling and doming and some have migrated into the outer segment layer
• post-weaning (adult) homozygotes exhibit slow retinal degeneration

renal/urinary system
• pre-weaning homozygotes that have been rescued with arginine supplementation exhibit severe orotic aciduria with 145 76 mol/mmol creatinine vs <1 mol/mmol in wild-type mice

behavior/neurological
• newborn homozygotes cease feeding and become lethargic within a few hours after birth

nervous system
• at 7 months or later, rescued homozygotes exhibit a moderate (20-30%) photoreceptor loss relative to wild-type mice
• at 2 months, rescued homozygotes exhibit a slight shortening of photoreceptor outer segments
• by 7 months or later, mutant photoreceptor outer segments appear disorganized and markedly shortened, esp. in the central superior and inferior retinal regions

pigmentation
• at 2 months, mutant retinas display normal morphology with slight swelling of the RPE
• by 7 months or later, mutant RPE cells exhibit irregular swelling and doming and some have migrated into the outer segment layer

Mouse Models of Human Disease
OMIM ID Ref(s)
Gyrate Atrophy of Choroid and Retina; GACR 258870 J:29269


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory