Strain Name:

B6 x B6EiC3 a/A-Otcspf/J

Stock Number:

000507

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Availability:

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Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Radiation Induced Mutation;
Additional information on Genetically Engineered and Mutant Mice.
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Specieslaboratory mouse
GenerationN21p
Generation Definitions

Important Note
Otcspf is incompletely recessive. Some heterozygous females display the mutant phenotype.

Related Strains

View Strains carrying   A     (18 strains)

Strains carrying   Otcspf allele
002343   B6EiC3Sn a/A-Otcspf/J
View Strains carrying   Otcspf     (1 strain)

Strains carrying other alleles of Otc
001811   B6EiC3Sn a/A-Otcspf-ash/J
001672   C57BL/6J-Otcspf-J/J
View Strains carrying other alleles of Otc     (2 strains)

Strains carrying other alleles of a
002655   Mus pahari/EiJ
000251   AEJ.Cg-ae +/a Gdf5bp-H/J
000202   AEJ/Gn-bd/J
000199   AEJ/GnLeJ
000433   B10.C-H3c H13? A/(28NX)SnJ
000427   B10.CE-H13b Aw/(30NX)SnJ
000423   B10.KR-H13? A/SnJ
000420   B10.LP-H13b Aw/Sn
000477   B10.PA-Bloc1s6pa H3e at/SnJ
000419   B10.UW-H3b we Pax1un at/SnJ
003879   B10;TFLe-a/a T Itpr3tf/+ Itpr3tf/J
001538   B6 x B6C3Sn a/A-T(1;9)27H/J
000916   B6 x B6C3Sn a/A-T(5;12)31H/J
000602   B6 x B6C3Sn a/A-T(8;16)17H/J
000593   B6 x B6CBCa Aw-J/A-Grid2Lc T(2;6)7Ca MitfMi-wh/J
000502   B6 x B6CBCa Aw-J/A-Myo5aflr Gnb5flr/J
000599   B6 x B6CBCa Aw-J/A-T(5;13)264Ca KitW-v/J
003759   B6 x B6EiC3Sn a/A-T(10;16)232Dn/J
002071   B6 x B6EiC3Sn a/A-T(11;17)202Dn/J
002113   B6 x B6EiC3Sn a/A-T(11A2;16B3)238Dn/J
002068   B6 x B6EiC3Sn a/A-T(11B1;16B5)233Dn/J
002069   B6 x B6EiC3Sn a/A-T(14E4or5;16B5)225Dn/J
001926   B6 x B6EiC3Sn a/A-T(15;16)198Dn/J
001832   B6 x B6EiC3Sn a/A-T(15E;16B1)60Dn/J
003758   B6 x B6EiC3Sn a/A-T(16C3-4;17A2)65Dn/J
001833   B6 x B6EiC3Sn a/A-T(1C2;16C3)45Dn/J
001903   B6 x B6EiC3Sn a/A-T(6F;18C)57Dn/J
001535   B6 x B6EiC3Sn a/A-T(8A4;12D1)69Dn/J
001831   B6 x B6EiC3Sn a/A-T(8C3;16B5)164Dn/J
000618   B6 x FSB/GnEi a/a Ctslfs/J
000577   B6 x STOCK a Oca2p Hps5ru2 Ednrbs/J
000601   B6 x STOCK a/a T(7;18)50H/J
000592   B6 x STOCK T(2;4)13H a/J
002016   B6(Cg)-Aw-J EdaTa-6J Chr YB6-Sxr/EiJ
000600   B6-Gpi1b x B6CBCa Aw-J/A-T(7;15)9H Gpi1a/J
000769   B6.C/(HZ18)By-at-44J/J
000203   B6.C3-Aiy/a/J
000017   B6.C3-Avy/J
001572   B6.C3-am-J/J
001809   B6.Cg-Aw-J EdaTa-6J +/+ ArTfm/J
000552   B6.Cg-Aw-J EdaTa-6J Sxr
001730   B6.Cg-Aw-J EdaTa-6J Sxrb Hya-/J
000841   B6.Cg-Aw-J EdaTa-By/J
000021   B6.Cg-Ay/J
100409   B6129PF1/J-Aw-J/Aw
014608   B6;129S1-a Kitlsl-24J/GrsrJ
000231   B6;C3Fe a/a-Csf1op/J
004200   B6;CBACa Aw-J/A-Npr2cn-2J/GrsrJ
000785   B6;D2-a Ces1ce/EiJ
000505   B6C3 Aw-J/A-Bloc1s5mu/J
000604   B6C3 a/A-T(10;13)199H +/+ Lystbg-J/J or Lystbg-2J/J
001750   B6C3Fe a/a-Eif3cXs-J/J
002807   B6C3Fe a/a-Meox2fla/J
000506   B6C3Fe a/a-Qkqk-v/J
000224   B6C3Fe a/a-Scyl1mdf/J
003020   B6C3Fe a/a-Zdhhc21dep/J
001037   B6C3Fe a/a-Agtpbp1pcd/J
000221   B6C3Fe a/a-Alx4lst-J/J
002062   B6C3Fe a/a-Atp7aMo-8J/J
001756   B6C3Fe a/a-Cacng2stg/J
001815   B6C3Fe a/a-Col1a2oim/J
000209   B6C3Fe a/a-Dh/J
000211   B6C3Fe a/a-Dstdt-J/J
000210   B6C3Fe a/a-Edardl-J/J
000207   B6C3Fe a/a-Edaraddcr/J
000182   B6C3Fe a/a-Eef1a2wst/J
001278   B6C3Fe a/a-Glra1spd/J
000241   B6C3Fe a/a-Glrbspa/J
002875   B6C3Fe a/a-Hoxd13spdh/J
000304   B6C3Fe a/a-Krt71Ca Scn8amed-J/J
000226   B6C3Fe a/a-Largemyd/J
000636   B6C3Fe a/a-Lmx1adr-J/J
001280   B6C3Fe a/a-Lse/J
001573   B6C3Fe a/a-MitfMi/J
001035   B6C3Fe a/a-Napahyh/J
000181   B6C3Fe a/a-Otogtwt/J
000278   B6C3Fe a/a-Papss2bm Hps1ep Hps6ru/J
000205   B6C3Fe a/a-Papss2bm/J
002078   B6C3Fe a/a-Pcdh15av-2J/J
000246   B6C3Fe a/a-Pitpnavb/J
001430   B6C3Fe a/a-Ptch1mes/J
000235   B6C3Fe a/a-Relnrl/J
000237   B6C3Fe a/a-Rorasg/J
000290   B6C3Fe a/a-Sox10Dom/J
000230   B6C3Fe a/a-Tcirg1oc/J
003612   B6C3Fe a/a-Trak1hyrt/J
001512   B6C3Fe a/a-Ttnmdm/J
001607   B6C3Fe a/a-Unc5crcm/J
000005   B6C3Fe a/a-Wc/J
000243   B6C3Fe a/a-Wnt1sw/J
000248   B6C3Fe a/a-Xpl/J
000624   B6C3Fe a/a-anx/J
008044   B6C3Fe a/a-bpck/J
002018   B6C3Fe a/a-din/J
002339   B6C3Fe a/a-nma/J
000240   B6C3Fe a/a-soc/J
000063   B6C3Fe a/a-sy/J
001055   B6C3Fe a/a-tip/J
000245   B6C3Fe a/a-tn/J
000065   B6C3Fe a/a-we Pax1un at/J
000296   B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
000019   B6C3Fe-a/a-Itpr1opt/J
001022   B6C3FeF1/J a/a
000314   B6CBACa Aw-J/A-EdaTa/J-XO
000501   B6CBACa Aw-J/A-Aifm1Hq/J
001046   B6CBACa Aw-J/A-Grid2Lc/J
000500   B6CBACa Aw-J/A-Gs/J
002703   B6CBACa Aw-J/A-Hydinhy3/J
000247   B6CBACa Aw-J/A-Kcnj6wv/J
000287   B6CBACa Aw-J/A-Plp1jp EdaTa/J
000515   B6CBACa Aw-J/A-SfnEr/J
000242   B6CBACa Aw-J/A-spc/J
000288   B6CBACa Aw-J/A-we a Mafbkr/J
001201   B6CBACaF1/J-Aw-J/A
006450   B6EiC3 a/A-Vss/GrsrJ
000971   B6EiC3 a/A-Och/J
000551   B6EiC3 a/A-Tbx15de-H/J
000557   B6EiC3-+ a/LnpUl A/J
000503   B6EiC3Sn a/A-Gy/J
001811   B6EiC3Sn a/A-Otcspf-ash/J
002343   B6EiC3Sn a/A-Otcspf/J
000391   B6EiC3Sn a/A-Pax6Sey-Dey/J
001923   B6EiC3Sn a/A-Ts(417)2Lws TimT(4;17)3Lws/J
001875   B6EiC3SnF1/J
000638   C3FeB6 A/Aw-J-Sptbn4qv-J/J
000200   C3FeB6 A/Aw-J-Ankank/J
001203   C3FeB6F1/J A/Aw-J
000225   C3FeLe.B6 a/a-Ptpn6me/J
000198   C3FeLe.B6-a/J
000291   C3FeLe.Cg-a/a Hm KitlSl Krt71Ca-J/J
001272   C3H/HeSnJ-Ahvy/J
000099   C3HeB/FeJ-Avy/J
001886   C3HeB/FeJLe a/a-gnd/J
000338   C57BL/6J Aw-J-EdaTa-6J/J
000584   C57BL/6J-+ T(1;2)5Ca/a +/J
000258   C57BL/6J-Ai/a/J
000774   C57BL/6J-Asy/a/J
000569   C57BL/6J-Aw-J-EdaTa +/+ ArTfm/J
000051   C57BL/6J-Aw-J/J
000055   C57BL/6J-at-33J/J
000070   C57BL/6J-atd/J
000284   CWD/LeJ
000670   DBA/1J
000671   DBA/2J
001057   HPT/LeJ
000260   JGBF/LeJ
002468   KK.Cg-Ay/J
000262   LS/LeJ
000265   MY/HuLeJ
000308   SSL/LeJ
001427   STOCK Aw us/J
000994   STOCK a Myo5ad Mregdsu/J
000064   STOCK a Tyrp1b Pmelsi/J
002238   STOCK a Tyrp1b shmy/J
001433   STOCK a skt/J
000579   STOCK a tp/J
000319   STOCK a us/J
002648   STOCK a/a Cln6nclf/J
000317   STOCK a/a Egfrwa2/J
000302   STOCK a/a MitfMi-wh +/+ Itpr1opt/J
000286   STOCK a/a Myo5ad fd/+ +/J
000281   STOCK a/a Tmem79ma Flgft/J
000206   STOCK a/a Tyrc-h/J
001432   STOCK a/a Tyrp1b Ndc1sks/Tyrp1b +/J
000312   STOCK stb + a/+ Fignfi a/J
000596   STOCK T(2;11)30H/+ x AEJ-a Gdf5bp-H/J or A/J-a Gdf5bp-J/J
000970   STOCK T(2;16)28H A/T(2;16)28H a/J
000590   STOCK T(2;4)1Sn a/J
000594   STOCK T(2;8)26H a/T(2;8)26H a Tyrp1+/Tyrp1b/J
000623   TR/DiEiJ
View Strains carrying other alleles of a     (170 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Otcspf/Otc+

        involves: C3H/HeJ * C57BL/6J
  • reproductive system phenotype
  • reduced female fertility
    • females are less fertile than controls   (MGI Ref ID J:31237)

Otcspf/Y

        involves: C3H/HeJ * C57BL/6J
  • mortality/aging
  • premature death
    • mean life span is 42 days with 93% mortality by day 88   (MGI Ref ID J:31237)
  • growth/size/body phenotype
  • decreased body size
    • smaller by 1 week of age   (MGI Ref ID J:31237)
    • weight loss
      • 1-3 days before death, mutants exhibit substantial weight loss   (MGI Ref ID J:31237)
  • homeostasis/metabolism phenotype
  • abnormal circulating amino acid level
    • plasma glutamine is 160% of control values   (MGI Ref ID J:31237)
    • plasma citrulline is 25% of control levels   (MGI Ref ID J:31237)
    • plasma ornithine and arginine are reduced   (MGI Ref ID J:31237)
  • abnormal urine homeostasis
    • urinary orotate excretion is elevated 13-fold   (MGI Ref ID J:31237)
  • increased circulating ammonia level
    • plasma ammonium levels are increased   (MGI Ref ID J:31237)
  • behavior/neurological phenotype
  • abnormal eating behavior
    • 1-3 days before death, mutants exhibit decreased feeding   (MGI Ref ID J:31237)
  • circling
    • some moribund mice develop rapid circling behavior   (MGI Ref ID J:31237)
  • decreased grooming behavior
    • 1-3 days before death, mutants exhibit a decrease in grooming that leads to an unkempt coat appearance   (MGI Ref ID J:31237)
  • hypoactivity
    • 1-3 days before death, mutants exhibit a decrease in activity   (MGI Ref ID J:31237)
  • tonic-clonic seizures
    • some moribund mice develop tonic-clonic seizures   (MGI Ref ID J:31237)
  • tremors
    • some moribund mice develop ataxic tremor   (MGI Ref ID J:31237)
  • nervous system phenotype
  • tonic-clonic seizures
    • some moribund mice develop tonic-clonic seizures   (MGI Ref ID J:31237)
  • renal/urinary system phenotype
  • abnormal urine homeostasis
    • urinary orotate excretion is elevated 13-fold   (MGI Ref ID J:31237)
  • reproductive system phenotype
  • priapism
    • one-fifth of males remain runted, hairless and develop priapism   (MGI Ref ID J:31237)
  • integument phenotype
  • sparse hair
    • mutants have less fur by 1 week of age   (MGI Ref ID J:31237)
  • wrinkled skin   (MGI Ref ID J:31237)

The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.

Otcspf/Otc+

        Background Not Specified
  • homeostasis/metabolism phenotype
  • abnormal circulating amino acid level
    • citrulline and arginine concentrations are lower than in controls   (MGI Ref ID J:23017)
  • abnormal enzyme/coenzyme activity   (MGI Ref ID J:23017)
    • decreased ornithine carbamoyltransferase activity
      • reduced activity of ornithine transcarbamylase (Otc) occurs in colon, small intestine, and liver   (MGI Ref ID J:7789)
  • oroticaciduria
    • mutants develop orotic aciduria that can be corrected by inactivation of ornithine aminotransferase using 5-fluoromethylornithine   (MGI Ref ID J:23017)
  • renal/urinary system phenotype
  • oroticaciduria
    • mutants develop orotic aciduria that can be corrected by inactivation of ornithine aminotransferase using 5-fluoromethylornithine   (MGI Ref ID J:23017)
  • integument phenotype
  • delayed hair appearance
    • late fur development, however by weaning, fur looks normal; incomplete and variable penetrance   (MGI Ref ID J:26975)
  • focal hair loss
    • incomplete and variable penetrance due to random X-inactivation   (MGI Ref ID J:26975)

Otcspf/Otcspf

        involves: CD-1
  • homeostasis/metabolism phenotype
  • abnormal amino acid level
    • increase in serum and brain glutamine levels   (MGI Ref ID J:784)
  • abnormal metabolism
    • alterations of cerebral metabolites; increase in ammonia, glutamine, alpha-ketoglutarate levels, glucose, and lactate levels in the brain and a decrease in glutamate content, ATP, pyruvate, and coA-SH levels   (MGI Ref ID J:784)
    • mitochondrial NADH/NAD+ ratios are lower than in controls while cytosolic NADH/NAD+ is higher in the brain and liver   (MGI Ref ID J:784)
    • increase in ammonia, glutamine, alpha-ketoglutarate, and lactate levels and decrease in ATP and pyruvate levels in the liver   (MGI Ref ID J:784)
  • increased circulating ammonia level   (MGI Ref ID J:784)

Otcspf/Otcspf

        Background Not Specified
  • growth/size/body phenotype
  • decreased body size
    • young mice are runted   (MGI Ref ID J:30359)
  • integument phenotype
  • abnormal coat appearance
    • coat is thin and rough   (MGI Ref ID J:30359)
    • sparse hair   (MGI Ref ID J:30359)
  • wrinkled skin
    • wrinkled skin is observed by 5-7 days of age; variable penetrance   (MGI Ref ID J:30359)

Otcspf/Y

        Background Not Specified
  • growth/size/body phenotype
  • decreased body size
    • seen by 5-7 days after birth   (MGI Ref ID J:23017)
  • homeostasis/metabolism phenotype
  • abnormal amino acid level
    • ornithine and citrulline levels are lower in intestinal tissue   (MGI Ref ID J:22268)
    • abnormal circulating amino acid level
      • circulating levels of arginine, citrulline and essential amino acids are reduced in suckling mice while plasma glutamine increases after weaning compared to controls   (MGI Ref ID J:22268)
      • glutamine concentration is high in the blood while threonine, tyrosine, arginine and citrulline levels are lower than in controls   (MGI Ref ID J:23017)
  • abnormal nucleotide metabolism
    • livers show a 4-fold increase in uridine nucleotides and a 50% decrease in adenosine nucleotides   (MGI Ref ID J:3633)
  • decreased ornithine carbamoyltransferase activity   (MGI Ref ID J:23017)
    • reduced activity of ornithine transcarbamylase (Otc) occurs in colon, small intestine, and liver   (MGI Ref ID J:22268)
  • increased circulating ammonia level
    • mutants exhibit hyperammonemia (3x higher than in controls) that can be corrected by inactivation of ornithine aminotransferase using 5-fluoromethylornithine   (MGI Ref ID J:23017)
  • oroticaciduria
    • mutants develop orotic aciduria that can be corrected by inactivation of ornithine aminotransferase using 5-fluoromethylornithine   (MGI Ref ID J:23017)
  • behavior/neurological phenotype
  • abnormal sleep behavior
    • males with alopecia are somnolent   (MGI Ref ID J:30359)
  • hyperactivity   (MGI Ref ID J:30359)
    • males are jittery and excited and the total number of entries into an arm of the Y maze is higher than in control males   (MGI Ref ID J:23017)
  • liver/biliary system phenotype
  • abnormal liver morphology
    • increase in ammonia and glutamine concentrations in the liver and a decrease in arginine levels   (MGI Ref ID J:23017)
  • nervous system phenotype
  • abnormal brain morphology
    • increase in ammonia and glutamine concentrations in the brain and a decrease in arginine levels   (MGI Ref ID J:23017)
    • spermidine and N-acetylspermidine concentrations are lower in the brains of mutants than in controls   (MGI Ref ID J:23017)
    • abnormal cerebral cortex pyramidal cell morphology
      • significant decrease in the complexity of the dendritic arbor and in dendritic terminal spine density of layer V pyramidal cells in the frontoparietal cortex   (MGI Ref ID J:48733)
    • decreased brain size
      • 4 week old mutants exhibit a reduced brain size, affecting both the cortex and striatum but showing ventricular enlargement   (MGI Ref ID J:48733)
    • enlarged brain ventricles
      • ventricular enlargement is observed in 4 week old mutants   (MGI Ref ID J:48733)
  • abnormal dendrite morphology
    • significant decrease in the complexity of the dendritic arbor and in dendritic terminal spine density of layer V pyramidal cells in the frontoparietal cortex   (MGI Ref ID J:48733)
  • renal/urinary system phenotype
  • orotic acid urinary bladder stones
    • light brown uroliths (stones) in urinary bladder   (MGI Ref ID J:30359)
    • stones consist mostly of orotic acid   (MGI Ref ID J:30359)
  • oroticaciduria
    • mutants develop orotic aciduria that can be corrected by inactivation of ornithine aminotransferase using 5-fluoromethylornithine   (MGI Ref ID J:23017)
  • integument phenotype
  • alopecia   (MGI Ref ID J:30359)
  • sparse hair
    • seen by 5-7 days after birth   (MGI Ref ID J:23017)

Otcspf/Y

        involves: C57BL/6
  • nervous system phenotype
  • abnormal brain morphology
    • mutants show a decreased density of serotonin2 (5-HT2) receptors and increased density of serotonin1A (5-HT1A) receptors   (MGI Ref ID J:1966)
  • behavior/neurological phenotype
  • abnormal head movements
    • mutants exhibit a significantly decreased head twitch response in response to the serotonin agonist quipazine due to decreased density of 5-HT2 receptors   (MGI Ref ID J:1966)
  • homeostasis/metabolism phenotype
  • abnormal body temperature homeostasis
    • mutants show an increase in hypothermia induced by the highest doses of 8-hydroxy(di-n-propylamino)tetralin compared controls due to increased density of 5-HT1A receptors   (MGI Ref ID J:1966)

Otcspf/Y

        involves: 22A/R * C57BL/6J
  • mortality/aging
  • postnatal lethality
    • hemizygous males show a high mortality rate by weaning that decreases with crossing into C57BL/6J background   (MGI Ref ID J:5653)
    • survival past weaning increases when mice are placed on a low-protein diet at 20-21 days of age   (MGI Ref ID J:5653)
  • growth/size/body phenotype
  • decreased body size   (MGI Ref ID J:5653)
  • renal/urinary system phenotype
  • orotic acid urinary bladder stones
    • orotic acid urinary bladder stones occur frequently in hemizygous males   (MGI Ref ID J:5653)
  • homeostasis/metabolism phenotype
  • decreased ornithine carbamoyltransferase activity
    • severely reduced activity of liver ornithine transcarbamylase   (MGI Ref ID J:5653)
  • integument phenotype
  • sparse hair
    • absence or relative paucity of fur   (MGI Ref ID J:5653)
  • wrinkled skin   (MGI Ref ID J:5653)

Otcspf/Y

        involves: CD-1
  • homeostasis/metabolism phenotype
  • abnormal amino acid level
    • increase in serum and brain glutamine levels   (MGI Ref ID J:784)
  • abnormal metabolism
    • energy metabolism intermediates in both liver and brain are affected by hyperammonemia and sodium benzoate treatment can correct the energy metabolism abnormalities   (MGI Ref ID J:2774)
    • alterations of cerebral metabolites; increase in ammonia, glutamine, alpha-ketoglutarate levels, glucose, and lactate levels in the brain and a decrease in glutamate content, ATP, pyruvate, and coA-SH levels   (MGI Ref ID J:784)
    • mitochondrial NADH/NAD+ ratios are lower than in controls while cytosolic NADH/NAD+ is higher in the brain and liver   (MGI Ref ID J:784)
    • increase in ammonia, alpha-ketoglutarate, and lactate levels and decrease in ATP and pyruvate levels in the liver   (MGI Ref ID J:784)
    • abnormal enzyme/coenzyme activity   (MGI Ref ID J:2774)
      • choline acetyltransferase activity is reduced by 63% in cerebral cortex, 53% in thalamus, 36% in striatum, 35% in brainstem and 26% in hippocampus   (MGI Ref ID J:23195)
      • acetylcholine esterase activity is reduced by 28% in the thalamus but not other regions   (MGI Ref ID J:23195)
      • monoamine oxidase-A activities are decreased by 23% and 16% in cerebellum and brainstem, respectively, while monoamine oxidase-B activities are increased by 22%, 20%, and 22% in cerebellum, brainstem, and cerebral cortex, respectively   (MGI Ref ID J:19848)
      • decreased ornithine carbamoyltransferase activity
        • hepatic ornithine transcarbamylase activity is less than 10% of controls   (MGI Ref ID J:23195)
  • increased circulating ammonia level   (MGI Ref ID J:784)
    • serum ammonia levels are increased by 58%   (MGI Ref ID J:23195)
    • mice develop hyperammonemia   (MGI Ref ID J:2774)
  • oroticaciduria
    • mutants exhibit orotic aciduria that can be treated with various inhibitors such as N-(phosphonoacetyl)-L-aspartate and ornithine but mutants are insensitive to cycloheximide and acivicin   (MGI Ref ID J:16786)
  • nervous system phenotype
  • abnormal brain morphology
    • brain ammonia levels are increased by 77%   (MGI Ref ID J:23195)
    • monoamine oxidase-A activities are decreased by 23% and 16% in cerebellum and brainstem, respectively, while monoamine oxidase-B activities are increased by 22%, 20%, and 22% in cerebellum, brainstem, and cerebral cortex, respectively   (MGI Ref ID J:19848)
    • peripheal-type (mitochondrial) benzodiazepine receptors are increased in density in the brain   (MGI Ref ID J:21306)
  • abnormal cholinergic neuron morphology
    • a decrease in choline acetyltransferase-positive neurons is seen throughout the cerebral cortex, septal area, and diagonal band, indicating a loss of forebrain cholinergic neurons   (MGI Ref ID J:23195)
  • endocrine/exocrine gland phenotype
  • abnormal testis morphology
    • peripheal-type (mitochondrial) benzodiazepine receptors are increased in density in the testis   (MGI Ref ID J:21306)
  • liver/biliary system phenotype
  • abnormal liver morphology
    • peripheal-type (mitochondrial) benzodiazepine receptors are increased in density in the liver   (MGI Ref ID J:21306)
  • renal/urinary system phenotype
  • abnormal kidney morphology
    • peripheal-type (mitochondrial) benzodiazepine receptors are increased in density in the kidney   (MGI Ref ID J:21306)
  • oroticaciduria
    • mutants exhibit orotic aciduria that can be treated with various inhibitors such as N-(phosphonoacetyl)-L-aspartate and ornithine but mutants are insensitive to cycloheximide and acivicin   (MGI Ref ID J:16786)
  • reproductive system phenotype
  • abnormal testis morphology
    • peripheal-type (mitochondrial) benzodiazepine receptors are increased in density in the testis   (MGI Ref ID J:21306)
  • behavior/neurological phenotype
  • impaired passive avoidance behavior
    • perform poorly in a passive avoidance test, with 6 of 11 mice failing to learn to avoid an electrified grid compared to 1 of 12 in the controls   (MGI Ref ID J:31237)
View Research Applications

Research Applications
This mouse can be used to support research in many areas including:

Otcspf related

Dermatology Research
Skin and Hair Texture Defects

Metabolism Research

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol A
Allele Name wild-type agouti
Allele Type Spontaneous
Common Name(s) dark-bellied agouti;
Strain of Originvarious
Gene Symbol and Name a, nonagouti
Chromosome 2
Gene Common Name(s) AGSW; AGTI; AGTIL; ASP; As; SHEP9; agouti; agouti signal protein; agouti suppressor;
General Note The A allele is usually regarded as a wild-type allele. The C3H and CBA mouse sublines are homozygous for agouti. Hairs are black with a subapical yellow band. This black-yellow-black pattern is referred to as agouti. The general appearance is yellowish brown, slightly lighter on the belly than on the back.
Molecular Note This allele, often referred to as wild-type, comprises a novel 131 amino acid protein encoded in a gene comprising four exons, three coding, spanning 18kb. Unique changes in this gene account for all other alleles that have been molecularly characterized. The expression of this allele is almost always dominant to other alleles of this gene. [MGI Ref ID J:3523]
 
Allele Symbol Otcspf
Allele Name sparse fur
Allele Type Radiation induced
Common Name(s) spf;
Gene Symbol and Name Otc, ornithine transcarbamylase
Chromosome X
Gene Common Name(s) AI265390; OCTD; Sf; Sparse-fur; expressed sequence AI265390; sparse fur; spf;
Molecular Note A C to A missense transversion mutation in exon 4 changes a histidine to asparagine (H117N), creating a hypomorphic allele. About 10% of normal liver enzyme activity remains in mutant mice. [MGI Ref ID J:8786]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

A related

Blewitt ME; Vickaryous NK; Hemley SJ; Ashe A; Bruxner TJ; Preis JI; Arkell R; Whitelaw E. 2005. An N-ethyl-N-nitrosourea screen for genes involved in variegation in the mouse. Proc Natl Acad Sci U S A 102(21):7629-34. [PubMed: 15890782]  [MGI Ref ID J:99816]

Bultman SJ; Michaud EJ; Woychik RP. 1992. Molecular characterization of the mouse agouti locus. Cell 71(7):1195-204. [PubMed: 1473152]  [MGI Ref ID J:3523]

Bundschuh VG; Madry M. 1988. [atwp mutation in an albino mouse substrain (AB/Hum-1)] Z Versuchstierkd 31(6):249-54. [PubMed: 3227730]  [MGI Ref ID J:16568]

Czyzyk TA; Sikorski MA; Yang L; McKnight GS. 2008. Disruption of the RIIbeta subunit of PKA reverses the obesity syndrome of Agouti lethal yellow mice. Proc Natl Acad Sci U S A 105(1):276-81. [PubMed: 18172198]  [MGI Ref ID J:131039]

Dickie MM. 1969. Mutations at the agouti locus in the mouse. J Hered 60(1):20-5. [PubMed: 5798139]  [MGI Ref ID J:30922]

Dry FW. 1928. The agouti coloration of the mouse (Mus Musculus) and the rat (Mus Norvegicus). J Genet 20:131-144.  [MGI Ref ID J:46318]

Dunn LC. 1945. A New Eye Color Mutant in the Mouse with Asymmetrical Expression. Proc Natl Acad Sci U S A 31(11):343-6. [PubMed: 16578176]  [MGI Ref ID J:13122]

Galbraith DB; Wolff GL; Brewer NL. 1979. Tissue microenvironment and the genetic control of hair pigment patterns in mice Dev Genet 1(2):167-179.  [MGI Ref ID J:156092]

Green EL. 1968. . In: Handbook on Genetically Standardized Jax Mice. The Jackson Laboratory, Bar Harbor, ME.  [MGI Ref ID J:36414]

Guido V; and The Mouse Mutant Resource (MMR) at The Jackson Laboratory. 2002. Two new mutations of white bellied agouti, w-46J and w-47J MGI Direct Data Submission :.  [MGI Ref ID J:77218]

Jackson IJ; Budd PS; Keighren M; McKie L. 2007. Humanized MC1R transgenic mice reveal human specific receptor function. Hum Mol Genet 16(19):2341-8. [PubMed: 17652101]  [MGI Ref ID J:129904]

Kelly EM. 1957. Beige, bg Mouse News Lett 16:36.  [MGI Ref ID J:29744]

Mather K; North SB. 1940. Umbrous: a case of dominance modification in mice. J Genet 40:229-41.  [MGI Ref ID J:280]

MouseBookTM. 2005. Information obtained from MouseBook<sup>TM</sup>, Medical Research Council Mammalian Genetics Unit, Harwell, UK. Unpublished :.  [MGI Ref ID J:169366]

Perry WL; Copeland NG; Jenkins NA. 1994. The molecular basis for dominant yellow agouti coat color mutations. Bioessays 16(10):705-7. [PubMed: 7980472]  [MGI Ref ID J:21244]

Phillips RJS. 1966. A cis-trans position effect at the A locus of the house mouse. Genetics 54(2):485-95. [PubMed: 5968639]  [MGI Ref ID J:5027]

Quevedo WC Jr.; Chase HB. 1958. An analysis of the light mutation of coat color in mice. J Morphol 102:329-345.  [MGI Ref ID J:13094]

Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York.  [MGI Ref ID J:78801]

Siracusa LD; Washburn LL; Swing DA; Argeson AC; Jenkins NA; Copeland NG. 1995. Hypervariable yellow (Ahvy), a new murine agouti mutation: Ahvy displays the largest variation in coat color phenotypes of all known agouti alleles. J Hered 86(2):121-8. [PubMed: 7751596]  [MGI Ref ID J:24247]

Otcspf related

Batshaw ML; Robinson MB; Ye X; Pabin C; Daikhin Y; Burton BK; Wilson JM; Yudkoff M. 1999. Correction of ureagenesis after gene transfer in an animal model and after liver transplantation in humans with ornithine transcarbamylase deficiency. Pediatr Res 46(5):588-93. [PubMed: 10541323]  [MGI Ref ID J:59819]

Batshaw ML; Yudkoff M; McLaughlin BA; Gorry E; Anegawa NJ; Smith IA; Hyman SL; Robinson MB. 1995. The sparse fur mouse as a model for gene therapy in ornithine carbamoyltransferase deficiency. Gene Ther 2(10):743-9. [PubMed: 8750014]  [MGI Ref ID J:31237]

Bell P; Moscioni AD; McCarter RJ; Wu D; Gao G; Hoang A; Sanmiguel JC; Sun X; Wivel NA; Raper SE; Furth EE; Batshaw ML; Wilson JM. 2006. Analysis of tumors arising in male B6C3F1 mice with and without AAV vector delivery to liver. Mol Ther 14(1):34-44. [PubMed: 16682254]  [MGI Ref ID J:115067]

Blair PJ; Bultman SJ; Haas JC; Rouse BT; Wilkinson JE; Godfrey VL. 1994. CD4+CD8- T cells are the effector cells in disease pathogenesis in the scurfy (sf) mouse. J Immunol 153(8):3764-74. [PubMed: 7930593]  [MGI Ref ID J:20865]

Briand P; Cathelineau L; Kamoun P; Gigot D; Penninckx M. 1981. Increase of ornithine transcarbamylase protein in sparse-fur mice with ornithine transcarbamylase deficiency. FEBS Lett 130(1):65-8. [PubMed: 6793393]  [MGI Ref ID J:6591]

Chang X; Chen L; Wen J; Godfrey VL; Qiao G; Hussien Y; Zhang J; Gao JX. 2006. Foxp3 controls autoreactive T cell activation through transcriptional regulation of early growth response genes and E3 ubiquitin ligase genes, independently of thymic selection. Clin Immunol 121(3):274-85. [PubMed: 16945588]  [MGI Ref ID J:115967]

Chang X; Gao JX; Jiang Q; Wen J; Seifers N; Su L; Godfrey VL; Zuo T; Zheng P; Liu Y. 2005. The Scurfy mutation of FoxP3 in the thymus stroma leads to defective thymopoiesis. J Exp Med 202(8):1141-51. [PubMed: 16230479]  [MGI Ref ID J:116829]

Cupp MB. 1958. Sparse-fur, Sf Mouse News Lett 19:37.  [MGI Ref ID J:26975]

D'Hooge R; Marescau B; Qureshi IA; De Deyn PP. 2000. Impaired cognitive performance in ornithine transcarbamylase-deficient mice on arginine-free diet Brain Res 876(1-2):1-9. [PubMed: 10973586]  [MGI Ref ID J:64535]

DeMars R; LeVan SL; Trend BL; Russell LB. 1976. Abnormal ornithine carbamoyltransferase in mice having the sparse-fur mutation. Proc Natl Acad Sci U S A 73(5):1693-7. [PubMed: 5727]  [MGI Ref ID J:5653]

Deignan JL; Cederbaum SD; Grody WW. 2008. Contrasting features of urea cycle disorders in human patients and knockout mouse models. Mol Genet Metab 93(1):7-14. [PubMed: 17933574]  [MGI Ref ID J:130077]

Doolittle DP; Hulbert LL; Cordy C. 1974. A new allele of the sparse fur gene in the mouse. J Hered 65(3):194-5. [PubMed: 4603259]  [MGI Ref ID J:5476]

Hopkins KJ; McKean J; Mervis RF; Oster-Granite ML. 1998. Dendritic alterations in cortical pyramidal cells in the sparse fur mouse. Brain Res 797(1):167-72. [PubMed: 9630607]  [MGI Ref ID J:48733]

Hopkins KJ; Oster-Granite ML. 1998. Characterization of N-methyl-d-aspartate receptors in the hyperammonemic sparse fur mouse. Brain Res 797(2):209-17. [PubMed: 9666130]  [MGI Ref ID J:48720]

Lichter-Konecki U; Mangin JM; Gordish-Dressman H; Hoffman EP; Gallo V. 2008. Gene expression profiling of astrocytes from hyperammonemic mice reveals altered pathways for water and potassium homeostasis in vivo. Glia 56(4):365-77. [PubMed: 18186079]  [MGI Ref ID J:156285]

Malo C. 1994. Free amino acid levels in serum and small intestine during the post-natal development of normal and sparse-fur mutant mice. Comp Biochem Physiol A Physiol 109(4):1049-57. [PubMed: 7828023]  [MGI Ref ID J:22268]

Nelson J; Qureshi IA; Vasudevan S; Sarma DS. 1993. The effects of various inhibitors on the regulation of orotic acid excretion in sparse-fur mutant mice (spf/Y) deficient in ornithine transcarbamylase. Chem Biol Interact 89(1):35-47. [PubMed: 8221965]  [MGI Ref ID J:16786]

Palomero-Gallagher N; Zilles K. 2013. Neurotransmitter receptor alterations in hepatic encephalopathy: a review. Arch Biochem Biophys 536(2):109-21. [PubMed: 23466244]  [MGI Ref ID J:206703]

Qureshi IA; Leblanc D; Cyr D; Giguere R; Mitchell G. 1993. Breeding experiments to combine the X-linked sparse-fur (spf) mutation with the autosomal recessive BALB/cByJ strain: testing the biochemical phenotype of double-mutant mice as a model for ammonia: fatty acyl CoA synergism. Biochem Biophys Res Commun 191(2):744-9. [PubMed: 8461026]  [MGI Ref ID J:4165]

Qureshi IA; Letarte J; Ouellet R. 1985. Expression of ornithine transcarbamylase deficiency in the small intestine and colon of sparse-fur mutant mice. J Pediatr Gastroenterol Nutr 4(1):118-24. [PubMed: 3981356]  [MGI Ref ID J:7789]

Rao KV; Mawal YR; Qureshi IA. 1997. Progressive decrease of cerebral cytochrome C oxidase activity in sparse-fur mice: role of acetyl-L-carnitine in restoring the ammonia-induced cerebral energy depletion. Neurosci Lett 224(2):83-6. [PubMed: 9086462]  [MGI Ref ID J:41534]

Rao VL; Qureshi IA; Butterworth RF. 1994. Activities of monoamine oxidase-A and -B are altered in the brains of congenitally hyperammonemic sparse-fur (spf) mice. Neurosci Lett 170(1):27-30. [PubMed: 8041507]  [MGI Ref ID J:19848]

Rao VL; Qureshi IA; Butterworth RF. 1993. Increased densities of binding sites for the peripheral-type benzodiazepine receptor ligand [3H]PK 11195 in congenital ornithine transcarbamylase-deficient sparse fur mouse. Pediatr Res 34(6):777-80. [PubMed: 8108192]  [MGI Ref ID J:21306]

Ratnakumari L; Qureshi IA; Butterworth RF. 1991. Effect of sodium benzoate on cerebral and hepatic energy metabolites in spf mice with congenital hyperammonemia Biochem Pharmacol 45(1):137-46. [PubMed: 8424807]  [MGI Ref ID J:2774]

Ratnakumari L; Qureshi IA; Butterworth RF. 1992. Effects of congenital hyperammonemia on the cerebral and hepatic levels of the intermediates of energy metabolism in spf mice. Biochem Biophys Res Commun 184(2):746-51. [PubMed: 1575747]  [MGI Ref ID J:784]

Ratnakumari L; Qureshi IA; Butterworth RF. 1994. Evidence for cholinergic neuronal loss in brain in congenital ornithine transcarbamylase deficiency. Neurosci Lett 178(1):63-5. [PubMed: 7816342]  [MGI Ref ID J:23195]

Ratnakumari L; Qureshi IA; Maysinger D; Butterworth RF. 1995. Developmental deficiency of the cholinergic system in congenitally hyperammonemic spf mice: effect of acetyl-L-carnitine. J Pharmacol Exp Ther 274(1):437-43. [PubMed: 7616428]  [MGI Ref ID J:28331]

Robinson MB; Anegawa NJ; Gorry E; Qureshi IA; Coyle JT; Lucki I; Batshaw ML. 1992. Brain serotonin2 and serotonin1A receptors are altered in the congenitally hyperammonemic sparse fur mouse. J Neurochem 58(3):1016-22. [PubMed: 1531355]  [MGI Ref ID J:1966]

Seiler N; Grauffel C; Daune-Anglard G; Sarhan S; Knodgen B. 1994. Decreased hyperammonaemia and orotic aciduria due to inactivation of ornithine aminotransferase in mice with a hereditary abnormal ornithine carbamoyltransferase. J Inherit Metab Dis 17(6):691-703. [PubMed: 7707692]  [MGI Ref ID J:23017]

Sundberg JP (ed.). 1994. Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. In: Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. CRC Press, Boca Raton.  [MGI Ref ID J:30359]

Vasudevan S; Qureshi IA; Mores L; Rao PM; Rajalakshmi S; Sarma DS. 1992. Abnormal hepatic nucleotide pools in sparse fur (spf) mutant mice deficient in ornithine transcarbamylase. Biochem Med Metab Biol 47(3):274-8. [PubMed: 1627360]  [MGI Ref ID J:3633]

Veres G; Gibbs RA; Scherer SE; Caskey CT. 1987. The molecular basis of the sparse fur mouse mutation. Science 237(4813):415-7. [PubMed: 3603027]  [MGI Ref ID J:8786]

Zahorsky-Reeves JL; Wilkinson JE. 2002. A transgenic mouse strain with antigen-specific T cells (RAG1KO/sf/OVA) demonstrates that the scurfy (sf) mutation causes a defect in T-cell tolerization. Comp Med 52(1):58-62. [PubMed: 11900414]  [MGI Ref ID J:120225]

Zimmer KP; Bendiks M; Mori M; Kominami E; Robinson MB; Ye X ; Wilson JM. 1999. Efficient mitochondrial import of newly synthesized ornithine transcarbamylase (OTC) and correction of secondary metabolic alterations in spf(ash) mice following gene therapy of OTC deficiency. Mol Med 5(4):244-53. [PubMed: 10448647]  [MGI Ref ID J:55968]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3175.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.
    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice
    Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $4127.50
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.
    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice
    Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Important Note

Otcspf is incompletely recessive. Some heterozygous females display the mutant phenotype.

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