About   Help   FAQ
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 (4 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 (J:29269)
• 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 (J:29269)
• 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 (J:29269)
• although apparently normal at birth, all homozygotes die 24-48 hrs after birth (J:29269)
• 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 (J:29269)
• 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 (J:29269)

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 (J:29269)
• in contrast to neonates, post-weaning (adult) homozygotes on a standard diet exhibit severe hyperornithinemia and hypolysinemia, similar to humans with gyrate atrophy (J:29269)
• 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 (J:29269)
• in contrast to neonates, post-weaning (adult) homozygotes on a standard diet exhibit severe hyperornithinemia and hypolysinemia, similar to humans with gyrate atrophy (J:29269)
• pre-weaning homozygotes that have been rescued with arginine supplementation exhibit a 5-fold increase in blood ammonia levels relative to wild-type mice (J:29269)
• pre-weaning homozygotes that have been rescued with arginine supplementation exhibit a 5-fold increase in blood ammonia levels relative to wild-type mice (J:29269)
• pre-weaning homozygotes that have been rescued with arginine supplementation exhibit severe orotic aciduria with 145 ▒ 76 Ámol/mmol creatinine vs <1 Ámol/mmol in wild-type mice (J:29269)
• pre-weaning homozygotes that have been rescued with arginine supplementation exhibit severe orotic aciduria with 145 ▒ 76 Ámol/mmol creatinine vs <1 Ámol/mmol in wild-type mice (J:29269)

vision/eye
• at 7 months or later, rescued homozygotes exhibit a moderate (20-30%) photoreceptor loss relative to wild-type mice (J:29269)
• at 7 months or later, rescued homozygotes exhibit a moderate (20-30%) photoreceptor loss relative to wild-type mice (J:29269)
• at 2 months, rescued homozygotes exhibit a slight shortening of photoreceptor outer segments (J:29269)
• by 7 months or later, mutant photoreceptor outer segments appear disorganized and markedly shortened, esp. in the central superior and inferior retinal regions (J:29269)
• at 2 months, rescued homozygotes exhibit a slight shortening of photoreceptor outer segments (J:29269)
• by 7 months or later, mutant photoreceptor outer segments appear disorganized and markedly shortened, esp. in the central superior and inferior retinal regions (J:29269)
• at 2 months, mutant retinas display normal morphology with slight swelling of the RPE (J:29269)
• by 7 months or later, mutant RPE cells exhibit irregular swelling and doming and some have migrated into the outer segment layer (J:29269)
• at 2 months, mutant retinas display normal morphology with slight swelling of the RPE (J:29269)
• by 7 months or later, mutant RPE cells exhibit irregular swelling and doming and some have migrated into the outer segment layer (J:29269)
• post-weaning (adult) homozygotes exhibit slow retinal degeneration (J:29269)
• post-weaning (adult) homozygotes exhibit slow retinal degeneration (J:29269)

renal/urinary system
• pre-weaning homozygotes that have been rescued with arginine supplementation exhibit severe orotic aciduria with 145 ▒ 76 Ámol/mmol creatinine vs <1 Ámol/mmol in wild-type mice (J:29269)
• pre-weaning homozygotes that have been rescued with arginine supplementation exhibit severe orotic aciduria with 145 ▒ 76 Ámol/mmol creatinine vs <1 Ámol/mmol in wild-type mice (J:29269)

behavior/neurological
• newborn homozygotes cease feeding and become lethargic within a few hours after birth (J:29269)
• newborn homozygotes cease feeding and become lethargic within a few hours after birth (J:29269)

nervous system
• at 7 months or later, rescued homozygotes exhibit a moderate (20-30%) photoreceptor loss relative to wild-type mice (J:29269)
• at 7 months or later, rescued homozygotes exhibit a moderate (20-30%) photoreceptor loss relative to wild-type mice (J:29269)
• at 2 months, rescued homozygotes exhibit a slight shortening of photoreceptor outer segments (J:29269)
• by 7 months or later, mutant photoreceptor outer segments appear disorganized and markedly shortened, esp. in the central superior and inferior retinal regions (J:29269)
• at 2 months, rescued homozygotes exhibit a slight shortening of photoreceptor outer segments (J:29269)
• by 7 months or later, mutant photoreceptor outer segments appear disorganized and markedly shortened, esp. in the central superior and inferior retinal regions (J:29269)

pigmentation
• at 2 months, mutant retinas display normal morphology with slight swelling of the RPE (J:29269)
• by 7 months or later, mutant RPE cells exhibit irregular swelling and doming and some have migrated into the outer segment layer (J:29269)
• at 2 months, mutant retinas display normal morphology with slight swelling of the RPE (J:29269)
• by 7 months or later, mutant RPE cells exhibit irregular swelling and doming and some have migrated into the outer segment layer (J:29269)

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
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/02/2016
MGI 6.02
The Jackson Laboratory