Strain Name:

B6.129P2-Psaptm1Suz/J

Stock Number:

002792

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Availability:

Cryopreserved - Ready for recovery

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 Congenic; Mutant Strain; Targeted Mutation;
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Specieslaboratory mouse
Background Strain C57BL/6J
Donor Strain 129P2 via E14-derived BK4 ES cell line
 
Donating InvestigatorDr. Kunihiko Suzuki,   Univ of North Carolina School of Med

Appearance
black
Related Genotype: a/a

Description
Almost 50% of mice homozygous for the Psaptm1Suz targeted mutation die in utero or shortly after birth. Survivors develop neurological problems arising at about 29 days of age and by 30 days of age show severe hypomyelination and periodic acid-Schiff-positive materials throughout the nervous system. They have intermittent seizures. Abnormalities are also found in the liver, spleen,brain, and kidney. Average lifespan of survivors is about 35 days.

Development
This strain was developed in the laboratory of Dr. Kunihiko Suzuki at the University of North Carolina. The targeting vector containing the neomycin resistance gene disrupted exon 3 of the Psap gene. The 129-derived BK4 subline of E14G2a ES cells was used. The C57BL/6J strain was generated by backcrossing mice carrying the Psaptm1Suz mutation 5 or more times to C57BL/6J inbred mice.

Control Information

  Control
   Wild-type from the colony
   000664 C57BL/6J
 
  Considerations for Choosing Controls

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Combined Saposin Deficiency   (PSAP)
Gaucher Disease, Atypical, Due to Saposin C Deficiency   (PSAP)
Krabbe Disease, Atypical, Due to Saposin A Deficiency   (PSAP)
Metachromatic Leukodystrophy Due to Saposin B Deficiency   (PSAP)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Psaptm1Suz/Psaptm1Suz

        B6.129P2-Psaptm1Suz
  • mortality/aging
  • partial prenatal lethality
    • with continued backcrossing to C57BL/6J, most homozygous embryos die in utero; live births are rare   (MGI Ref ID J:120657)
  • premature death   (MGI Ref ID J:120657)
  • homeostasis/metabolism phenotype
  • *normal* homeostasis/metabolism phenotype
    • galactosylalkylacylglycerol (GalEAG) levels in the testis dramatically increase by 12 days of age, peak at 16 days and decrease rapidly to adult level, similar to pattern of wild-type   (MGI Ref ID J:120657)
    • abnormal lipid level
      • testis contain 150% of normal level of seminolipid at terminal stage of 34 days   (MGI Ref ID J:120657)
      • sphingomyelin levels are ~170% of control levels at terminal stage (34 days)   (MGI Ref ID J:120657)
  • reproductive system phenotype
  • *normal* reproductive system phenotype
    • testis weight of homozygotes is not decreased, even at terminal stage of 34 days   (MGI Ref ID J:120657)
    • no obvious sign of abnormal spermatogenesis is observed at 30 days   (MGI Ref ID J:120657)

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

Psaptm1Suz/Psap+

        involves: 129P2/OlaHsd * FVB
  • hearing/vestibular/ear phenotype
  • abnormal cochlea morphology
    • at P12-P30, heterozygotes display a subtle cellular hyperplasia of the cells lining the region of the inner sulcus and greater epithelial ridge relative to wild-type mice   (MGI Ref ID J:116349)
    • however, overall cochlear morphology and bony anatomy is normal, and no hearing impairment is noted after P19   (MGI Ref ID J:116349)

Psaptm1Suz/Psaptm1Suz

        involves: 129P2/OlaHsd
  • mortality/aging
  • complete lethality at weaning
    • those that survive beyond the first few days grow normally until P18-P20 but generally die at about P35 in an emaciated condition   (MGI Ref ID J:33477)
    • attempts at keeping affected mice alive at greater than P35-P38 by forced feeding have been unsuccessful   (MGI Ref ID J:33477)
  • partial neonatal lethality
    • a reduced number of homozygotes survive beyond a few days after birth (13% vs expected 25%); these die neonatally within a day or two of birth   (MGI Ref ID J:33477)
  • partial prenatal lethality
    • a number of homozygotes appear to die in utero   (MGI Ref ID J:33477)
  • growth/size/body phenotype
  • decreased body size
    • BY ~P18-P20, affected homozygotes are slightly smaller than wild-type littermates   (MGI Ref ID J:33477)
    • at P35-P38, the body size of affected mice is less than 50% of wild-type littermates   (MGI Ref ID J:33477)
    • decreased body weight
      • mice are smaller than littermates at birth and by day 30, body weight is >50% of wild-type or heterozygotes   (MGI Ref ID J:113052)
      • slow postnatal weight gain
        • after birth mice gain less body weight than littermates   (MGI Ref ID J:113052)
  • reproductive system phenotype
  • abnormal epididymis morphology
    • smaller tubular diameters and shorter undifferentiated epithelial cells are observed in epididymes   (MGI Ref ID J:106511)
    • epithelium lining the efferent ducts is made up of mainly ciliated cells in mutants whereas wild-type mice epithelium is majorly composed of nonciliated cells   (MGI Ref ID J:106511)
    • decreased epididymis weight
      • reduced in weight by 37%   (MGI Ref ID J:106511)
  • abnormal prostate gland morphology
    • tubular diameter is smaller than wild-type   (MGI Ref ID J:106511)
    • at 25 and 30 days after birth, prostates of mutants are less developed and lined by an epithelium composed of short cells   (MGI Ref ID J:106511)
    • abnormal prostate gland epithelium morphology
      • prostatic epithelial cells in 37-day old males are shorter than those seen in controls   (MGI Ref ID J:106511)
    • decreased prostate gland weight
      • reduced in weight by 60%   (MGI Ref ID J:106511)
  • abnormal seminal vesicle morphology
    • glands have smaller tubular diameters and shorter undifferentiated epithelial cells   (MGI Ref ID J:106511)
    • decreased seminal vesicle weight
      • seminal vesicles are reduced in weight by 75%   (MGI Ref ID J:106511)
  • decreased male germ cell number
    • 37-day old males have a reduced number of late spermatids compared to wild-type and heterozygotes   (MGI Ref ID J:106511)
  • decreased testis weight
    • testes are reduced in weight and size by 30% relative to wild-type controls   (MGI Ref ID J:106511)
  • nervous system phenotype
  • abnormal nervous system morphology
    • at P10, neuronal storage characterized by anti-ubiquitin Ab visualized granular immunoactivity becomes detectable in neuronal soma and neuropil of the spinal cord, and less prominently in brain stem and cerebrum   (MGI Ref ID J:113052)
    • abnormal Schwann cell morphology
      • Schwann cells with foamy cytoplasm are found in trigeminal and sciatic nerves, as well as the dorsal and ventral roots; similar myelin changes are seen in dorsal and ventral roots   (MGI Ref ID J:113052)
      • after P20, cytoplasmic inclusions are found in Schwann cells of many myelinated fibers, and some unmyelinated fibers   (MGI Ref ID J:113052)
    • abnormal astrocyte morphology
      • after P30, some astrocytes contains inclusions; inclusions are conspicuous in macrophages and consist of aggregates of small vesicular lamellar structures and electron-dense granules often bounded by a membrane   (MGI Ref ID J:113052)
      • astrocytosis
        • astrocytes and microglia/macrophages are increased in numbers in cerebral and cerebellar white matter and fiber tracts of brain stem and spinal cord; after P30, increased numbers are detected in the gray matter   (MGI Ref ID J:113052)
    • abnormal brain white matter morphology
      • the mutant white matter is pale and ill-defined from the grey matter, suggesting paucity of myelin   (MGI Ref ID J:33477)
    • abnormal choroid plexus morphology
      • choroid plexus epithelial cells contain inclusions detected at P10   (MGI Ref ID J:113052)
    • abnormal dorsal root ganglion morphology
      • at P1, many neurons of DRG contain ubiquitin-positive granular inclusions, similar to the inclusions found in CNS and trigeminal ganglion of older mice   (MGI Ref ID J:113052)
    • abnormal enteric ganglia morphology
      • lamellar inclusions are seen in many ganglion cells in submucosal and myenteric plexi at P10, with myelin ovoids and abnormal Schwann cells similar to those in CNS and DRG after P20; axonal spheroids with dense bodies are also observed   (MGI Ref ID J:113052)
    • abnormal neuron morphology
      • at P1, few membrane-bound inclusions are detected, becoming more abundant with aging; after P30, storage neurons with foamy perikarya are conspicuous in the CNS   (MGI Ref ID J:113052)
      • spinal neurons contain many inclusions containing small vesicular or concentric lamellar structures admixed with granular structures by P10   (MGI Ref ID J:113052)
      • in cerebral cortical neurons, inclusions containing electron-dense granular or amorphous materials are more common than in spinal neurons   (MGI Ref ID J:113052)
      • membrane-bound dense bodies are found in the dendrites and axons in the cerebral cortex and spinal gray matter   (MGI Ref ID J:113052)
      • in cerebellum, inclusions are noted in granular cells but rarely in Purkinje cells before P20   (MGI Ref ID J:113052)
      • large inclusions consisting of granular or lamellar structures of various sizes and shapes are detected in many CNS neurons after P30   (MGI Ref ID J:113052)
      • after P30, cell bodies of CNS neurons contain heterogeneous storage materials, including eosinophilic and basophilic materials   (MGI Ref ID J:113052)
      • at P36, intramuscular nerves show Schwann cell changes like those observed in sciatic nerve   (MGI Ref ID J:113052)
      • large inclusions consisting of granular or lamellar structures of various sizes and shapes are detected in many CNS neurons after P30   (MGI Ref ID J:113052)
  • axon degeneration
    • degenerating large axons with electron-dense amorphous material and lamellar structures are detected in CNS after P20   (MGI Ref ID J:113052)
    • paucity of myelin is detected in cerebral and cerebellar white matter and fiber tracts of brain stem and spinal cord after P30   (MGI Ref ID J:113052)
    • in peripheral nerves, some myelinated fibers exhibit degeneration but unmyelinated fibers are normal   (MGI Ref ID J:113052)
    • sciatic and trigeminal nerves show various stages of axonal degeneration and occasional paranodal swelling after day 36   (MGI Ref ID J:113052)
    • axonal spheroids
      • axonal spheroids (localized axonal swellings) are detected in clusters in cerebral white matter adjacent to the striatum, ventral stria medullaris thalami, dorsal fornix, anterior commissure, and inferior cerebellar peduncle   (MGI Ref ID J:113052)
      • at P20, spheroids are mainly detected in the CNS white matter (spinal cord, brain stem, optic nerve) but increase in frequency in the gray matter after P30   (MGI Ref ID J:113052)
      • spheroids consist of axons filled with concentric or lamellar electron-dense bodies 0.1-0.3 um in diameter; after P20, many spheroids are covered with a myelin sheath   (MGI Ref ID J:113052)
      • some axonal spheroids are found at P20 in trigeminal and sciatic nerves; after P30, myelin ovoids increase   (MGI Ref ID J:113052)
  • demyelination
    • at P30, homozygotes display severe hypomyelination and periodic acid-Schiff-positive materials throughout the nervous system and in abnormal cells in the liver and spleen   (MGI Ref ID J:33477)
  • seizures
    • mice start to show seizure activity around postnatal day 30 (P30)   (MGI Ref ID J:113052)
    • tonic seizures
      • at >P30, intermittent seizures develop and progress to continual tonic status epilepticus   (MGI Ref ID J:33477)
  • behavior/neurological phenotype
  • abnormal food intake
    • food intake decreases after 30 days of age, coincident with development of neurological symptoms   (MGI Ref ID J:113052)
  • abnormal gait
    • around postnatal day 20 (P20), mice develop gait disturbances   (MGI Ref ID J:113052)
  • abnormal head movements
    • at ~P18-P20, homozygotes display tremulousness of the head   (MGI Ref ID J:33477)
    • head shaking
      • by P28-P30, homozygotes exhibit gross shaking of the head   (MGI Ref ID J:33477)
  • ataxia
    • at ~P18-P20, homozygotes display weakness/ataxia of the hindlegs   (MGI Ref ID J:33477)
  • hindlimb paralysis
    • hindlimb paralysis progresses slowly   (MGI Ref ID J:113052)
  • hyperactivity
    • majority of mice display seizure-like hyperactivity after P30   (MGI Ref ID J:113052)
  • hypoactivity
    • around postnatal day 20 (P20), mice begin to exhibit reduced activity   (MGI Ref ID J:113052)
  • paraparesis
    • after postnatal day 20 (P20), mice show progressive hindlimb weakness   (MGI Ref ID J:113052)
  • seizures
    • mice start to show seizure activity around postnatal day 30 (P30)   (MGI Ref ID J:113052)
    • tonic seizures
      • at >P30, intermittent seizures develop and progress to continual tonic status epilepticus   (MGI Ref ID J:33477)
  • tremors
    • by P30, homozygotes develop gross shaking of the trunk   (MGI Ref ID J:33477)
    • around postnatal day 20 (P20), mice develop tremor, first noted in tail during walking and soon becoming generalized to whole body   (MGI Ref ID J:113052)
  • muscle phenotype
  • abnormal muscle fiber morphology
    • some fibers show membranous inclusions   (MGI Ref ID J:113052)
  • muscular atrophy
    • majority of hindlimb girdle muscles become atrophic around P20   (MGI Ref ID J:113052)
    • skeletal muscles show occasional atrophic fibers on P36   (MGI Ref ID J:113052)
  • progressive muscle weakness
    • by P30, homozygotes display severe weakness of all legs   (MGI Ref ID J:33477)
  • renal/urinary system phenotype
  • abnormal renal tubule morphology
    • many renal tubular epithelial cells have a granular appearance after P30   (MGI Ref ID J:113052)
    • proximal renal tubule epithelial cells have membranous inclusions at P10; at P30 many cells have electron-dense membrane-bound inclusions containing dense granules and small vesicular structures   (MGI Ref ID J:113052)
    • in older mice, inclusions are found in both proximal and distal tubule epithelial cells   (MGI Ref ID J:113052)
  • small kidney
    • affected homozygotes display a significant reduction in kidney size   (MGI Ref ID J:33477)
    • no visceral organ abnormalities or organomegaly are observed   (MGI Ref ID J:33477)
    • decreased kidney weight
      • general weight reduction of 19%   (MGI Ref ID J:106511)
  • homeostasis/metabolism phenotype
  • abnormal circulating testosterone level
    • levels are normal or higher in mutants relative to wild-type mice   (MGI Ref ID J:106511)
  • abnormal lipid homeostasis
    • at P30, predominantly lactosylceramide, as well as ceramide, glucosylceramide, galactosylceramide, sulfatide, and globotriaosylceramide are abnormally increased in brain, liver, and kidney; their catabolism is abnormally slow in cultured fibroblasts   (MGI Ref ID J:33477)
    • abnormal lipid level
      • at 40 days, brain levels of psychosine (galactosylsphingosine) is much lower (17.2 pmoL/mg) than in wild-type controls (34 pmol/mg)   (MGI Ref ID J:78223)
  • endocrine/exocrine gland phenotype
  • abnormal prostate gland morphology
    • tubular diameter is smaller than wild-type   (MGI Ref ID J:106511)
    • at 25 and 30 days after birth, prostates of mutants are less developed and lined by an epithelium composed of short cells   (MGI Ref ID J:106511)
    • abnormal prostate gland epithelium morphology
      • prostatic epithelial cells in 37-day old males are shorter than those seen in controls   (MGI Ref ID J:106511)
    • decreased prostate gland weight
      • reduced in weight by 60%   (MGI Ref ID J:106511)
  • abnormal seminal vesicle morphology
    • glands have smaller tubular diameters and shorter undifferentiated epithelial cells   (MGI Ref ID J:106511)
    • decreased seminal vesicle weight
      • seminal vesicles are reduced in weight by 75%   (MGI Ref ID J:106511)
  • decreased testis weight
    • testes are reduced in weight and size by 30% relative to wild-type controls   (MGI Ref ID J:106511)
  • hematopoietic system phenotype
  • abnormal macrophage morphology
    • in liver sinusoids, macrophages contain straight or curved loosely packed lamellar or small vesicular structures at P10; such structures increased in number and size markedly after P30 and often form tightly packed membranous conglomerates   (MGI Ref ID J:113052)
    • macrophages containing inclusions are found in the spleen at P10; after P30, macrophages with foamy periodic Schiff-positive cytoplasm increase in frequency in spleen   (MGI Ref ID J:113052)
  • decreased spleen weight
    • general weight reduction of 17%   (MGI Ref ID J:106511)
  • immune system phenotype
  • abnormal macrophage morphology
    • in liver sinusoids, macrophages contain straight or curved loosely packed lamellar or small vesicular structures at P10; such structures increased in number and size markedly after P30 and often form tightly packed membranous conglomerates   (MGI Ref ID J:113052)
    • macrophages containing inclusions are found in the spleen at P10; after P30, macrophages with foamy periodic Schiff-positive cytoplasm increase in frequency in spleen   (MGI Ref ID J:113052)
  • decreased spleen weight
    • general weight reduction of 17%   (MGI Ref ID J:106511)
  • liver/biliary system phenotype
  • abnormal hepatocyte morphology
    • some hepatocytes have lamellar and vesicular inclusions from P10   (MGI Ref ID J:113052)
  • decreased liver weight
    • general weight reduction of 20%   (MGI Ref ID J:106511)
  • cardiovascular system phenotype
  • abnormal vascular endothelial cell morphology
    • IN CNS, vesicular inclusions composed of many small vesicles are found in vascular endothelial cells after P20   (MGI Ref ID J:113052)
    • at P36 in lungs, some cells have inclusions   (MGI Ref ID J:113052)
  • vision/eye phenotype
  • abnormal eye morphology
    • neuronal inclusions in ganglion cells increase after P10   (MGI Ref ID J:113052)
    • abnormal corneal stroma morphology
      • fibroblasts in corneal stroma show inclusions made up of granular and membranous structures at P36   (MGI Ref ID J:113052)

Psaptm1Suz/Psaptm1Suz

        involves: 129P2/OlaHsd * C57BL/6J
  • nervous system phenotype
  • abnormal myelination
    • myelin basic protein is decrease to about 45% of normal   (MGI Ref ID J:121761)

Psaptm1Suz/Psaptm1Suz

        involves: 129P2/OlaHsd * FVB
  • hearing/vestibular/ear phenotype
  • abnormal cochlea morphology
    • starting at P15 and increasing through P30, homozygotes display a marked hyperplasia of cells surrounding the IHC and in the region of the inner sulcus and greater epithelial ridge   (MGI Ref ID J:116349)
    • other structures of the inner ear, including Reisner's membrane, stria vascularis, spiral ganglion, and cochlear scalae, appear unaffected   (MGI Ref ID J:116349)
    • abnormal organ of Corti morphology
      • starting at P15 and increasing through P30, homozygotes show a small bulge of tissue in the tunnel of Corti adjacent to the inner pillar cell   (MGI Ref ID J:116349)
      • abnormal Deiters cell morphology
        • at >P25, homozygotes display hypertrophy of DCs, with an ill-defined border between DCs and the OHCs relative to wild-type mice   (MGI Ref ID J:116349)
        • the synaptic cleft between the OHC and DCs is also abnormally enlarged   (MGI Ref ID J:116349)
      • abnormal cochlear OHC efferent innervation pattern
        • synaptophysin (efferent auditory neuronal) staining indicates that the tissue bulging into the tunnel of Corti represents a proliferation of efferent nerve terminal endings attempting to cross the tunnel of Corti on their way to OHCs; limited staining is noted in the region of OHCs at both P11 and P21   (MGI Ref ID J:116349)
      • abnormal cochlear inner hair cell morphology
        • as early as P12, homozygotes display a cellular hypertrophy in the region of IHCs, which continues through P30   (MGI Ref ID J:116349)
        • abnormal cochlear IHC afferent innervation pattern
          • NF-200 (afferent auditory neuronal) staining indicates an initial delay in the development of afferent terminals at P11, with subsequent prolific sprouting corresponding to the hypercellular region surrounding the IHC by P21   (MGI Ref ID J:116349)
        • abnormal cochlear IHC efferent innervation pattern
          • at P11, a slightly decreased synaptophysin (efferent auditory neuronal) staining intensity is noted in the region of IHCs   (MGI Ref ID J:116349)
      • cochlear outer hair cell degeneration
        • starting at P12, homozygotes show up to a 40% loss of OHCs in the cochlear apex extending through the first 2 mm of the cochlear duct, as well as vacuolization of OHCs   (MGI Ref ID J:116349)
        • in contrast, IHC numbers remain normal throughout the cochlea   (MGI Ref ID J:116349)
  • abnormal cochlear outer hair cell physiology
    • no adequate whole-cell voltage-clamp recordings can be obtained from homozygous mutant OHCs; when achieved, large leak currents are found, and active membrane currents are poor or absent, precluding assessment of cholinergic function   (MGI Ref ID J:116349)
    • in contrast, IHC recordings from homozygous mutant mice exhibit normal current-voltage I-V curves both at P7-P11 and at ~3 weeks of age (P19), as well as normal responses to applied acetylcholine, indicating functionally normal cholinergic efferent synapses at the IHC   (MGI Ref ID J:116349)
  • abnormal distortion product otoacoustic emission
    • prior to P19, homozygotes display significantly reduced DPOAE amplitudes at very low (8 kHz) and high (32 kHz) frequencies relative to heterozygous and wild-type mice   (MGI Ref ID J:116349)
    • by P30, DPOAEs are significantly reduced at all test frequencies   (MGI Ref ID J:116349)
  • deafness
    • homozygotes are deaf by P25   (MGI Ref ID J:116349)
  • increased or absent threshold for auditory brainstem response
    • at ~2-4 weeks, homozygotes display significantly higher ABR thresholds in response to click stimuli and tone pips at 8, 16, and 32 kHz relative to heterozygous and wild-type littermates   (MGI Ref ID J:116349)
  • sensorineural hearing loss
    • although auditory development is normal through P19, hearing of homozygotes declines rapidly thereafter   (MGI Ref ID J:116349)
  • nervous system phenotype
  • abnormal cochlear OHC efferent innervation pattern
    • synaptophysin (efferent auditory neuronal) staining indicates that the tissue bulging into the tunnel of Corti represents a proliferation of efferent nerve terminal endings attempting to cross the tunnel of Corti on their way to OHCs; limited staining is noted in the region of OHCs at both P11 and P21   (MGI Ref ID J:116349)
  • abnormal cochlear inner hair cell morphology
    • as early as P12, homozygotes display a cellular hypertrophy in the region of IHCs, which continues through P30   (MGI Ref ID J:116349)
    • abnormal cochlear IHC afferent innervation pattern
      • NF-200 (afferent auditory neuronal) staining indicates an initial delay in the development of afferent terminals at P11, with subsequent prolific sprouting corresponding to the hypercellular region surrounding the IHC by P21   (MGI Ref ID J:116349)
    • abnormal cochlear IHC efferent innervation pattern
      • at P11, a slightly decreased synaptophysin (efferent auditory neuronal) staining intensity is noted in the region of IHCs   (MGI Ref ID J:116349)
  • abnormal cochlear outer hair cell physiology
    • no adequate whole-cell voltage-clamp recordings can be obtained from homozygous mutant OHCs; when achieved, large leak currents are found, and active membrane currents are poor or absent, precluding assessment of cholinergic function   (MGI Ref ID J:116349)
    • in contrast, IHC recordings from homozygous mutant mice exhibit normal current-voltage I-V curves both at P7-P11 and at ~3 weeks of age (P19), as well as normal responses to applied acetylcholine, indicating functionally normal cholinergic efferent synapses at the IHC   (MGI Ref ID J:116349)
  • cochlear outer hair cell degeneration
    • starting at P12, homozygotes show up to a 40% loss of OHCs in the cochlear apex extending through the first 2 mm of the cochlear duct, as well as vacuolization of OHCs   (MGI Ref ID J:116349)
    • in contrast, IHC numbers remain normal throughout the cochlea   (MGI Ref ID J:116349)
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Psaptm1Suz related

Neurobiology Research
Metabolic Defects
Myelination Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Psaptm1Suz
Allele Name targeted mutation 1, Kunihiko Suzuki
Allele Type Targeted (knock-out)
Common Name(s) PS-; SAP-;
Mutation Made ByDr. Kunihiko Suzuki,   Univ of North Carolina School of Med
Strain of Origin129P2/OlaHsd
ES Cell Line NameBK4
ES Cell Line Strain129P2/OlaHsd
Gene Symbol and Name Psap, prosaposin
Chromosome 10
Gene Common Name(s) AI037048; GLBA; SAP1; SGP-1; SGP1A; expressed sequence AI037048;
Molecular Note Exon 3 was disrupted by the insertion of a neomycin selection cassette. Northern blot analysis of tissues obtained from homozygous mutant mice showed an absence of transcript. [MGI Ref ID J:33477]

Genotyping

Genotyping Information

Genotyping Protocols

Psaptm1Suz, Standard PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Fujita N; Suzuki K; Vanier MT; Popko B; Maeda N; Klein A; Henseler M; Sandhoff K; Nakayasu H; Suzuki K. 1996. Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids. Hum Mol Genet 5(6):711-25. [PubMed: 8776585]  [MGI Ref ID J:33477]

Additional References

Psaptm1Suz related

Akil O; Chang J; Hiel H; Kong JH; Yi E; Glowatzki E; Lustig LR. 2006. Progressive deafness and altered cochlear innervation in knock-out mice lacking prosaposin. J Neurosci 26(50):13076-88. [PubMed: 17167097]  [MGI Ref ID J:116349]

Doering T; Holleran WM; Potratz A; Vielhaber G; Elias PM; Suzuki K; Sandhoff K. 1999. Sphingolipid activator proteins are required for epidermal permeability barrier formation. J Biol Chem 274(16):11038-45. [PubMed: 10196186]  [MGI Ref ID J:54238]

Matsuda J; Vanier MT; Saito Y; Tohyama J; Suzuki K; Suzuki K. 2001. A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse. Hum Mol Genet 10(11):1191-9. [PubMed: 11371512]  [MGI Ref ID J:78223]

Mazzulli JR; Xu YH; Sun Y; Knight AL; McLean PJ; Caldwell GA; Sidransky E; Grabowski GA; Krainc D. 2011. Gaucher disease glucocerebrosidase and alpha-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell 146(1):37-52. [PubMed: 21700325]  [MGI Ref ID J:174780]

Morales CR; Zhao Q; El-Alfy M; Suzuki K. 2000. Targeted disruption of the mouse prosaposin gene affects the development of the prostate gland and other male reproductive organs. J Androl 21(6):765-75. [PubMed: 11105903]  [MGI Ref ID J:106511]

Oya Y; Nakayasu H; Fujita N; Suzuki K; Suzuki K. 1998. Pathological study of mice with total deficiency of sphingolipid activator proteins (SAP knockout mice). Acta Neuropathol (Berl) 96(1):29-40. [PubMed: 9678511]  [MGI Ref ID J:113052]

Sun Y; Liou B; Xu YH; Quinn B; Zhang W; Hamler R; Setchell KD; Grabowski GA. 2012. Ex vivo and in vivo effects of isofagomine on acid beta-glucosidase variants and substrate levels in Gaucher disease. J Biol Chem 287(6):4275-87. [PubMed: 22167193]  [MGI Ref ID J:181511]

Sun Y; Qi X; Witte DP; Ponce E; Kondoh K; Quinn B; Grabowski GA. 2002. Prosaposin: threshold rescue and analysis of the 'neuritogenic' region in transgenic mice. Mol Genet Metab 76(4):271-86. [PubMed: 12208132]  [MGI Ref ID J:101664]

Sun Y; Quinn B; Witte DP; Grabowski GA. 2005. Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants. J Lipid Res 46(10):2102-13. [PubMed: 16061944]  [MGI Ref ID J:104722]

Sun Y; Quinn B; Xu YH; Leonova T; Witte DP; Grabowski GA. 2006. Conditional expression of human acid beta-glucosidase improves the visceral phenotype in a Gaucher disease mouse model. J Lipid Res 47(10):2161-70. [PubMed: 16861620]  [MGI Ref ID J:116525]

Sun Y; Witte DP; Ran H; Zamzow M; Barnes S; Cheng H; Han X; Williams MT; Skelton MR; Vorhees CV; Grabowski GA. 2008. Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice. Hum Mol Genet 17(15):2345-56. [PubMed: 18480170]  [MGI Ref ID J:137650]

Sun Y; Witte DP; Zamzow M; Ran H; Quinn B; Matsuda J; Grabowski GA. 2007. Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and alpha-hydroxy ceramide accumulation, and altered prosaposin trafficking. Hum Mol Genet 16(8):957-71. [PubMed: 17353235]  [MGI Ref ID J:121761]

Tadano-Aritomi K; Matsuda J; Fujimoto H; Suzuki K; Ishizuka I. 2003. Seminolipid and its precursor/degradative product, galactosylalkylacylglycerol, in the testis of saposin A- and prosaposin-deficient mice. J Lipid Res 44(9):1737-43. [PubMed: 12810822]  [MGI Ref ID J:120657]

Toyofuku T; Nojima S; Ishikawa T; Takamatsu H; Tsujimura T; Uemura A; Matsuda J; Seki T; Kumanogoh A. 2012. Endosomal sorting by Semaphorin 4A in retinal pigment epithelium supports photoreceptor survival. Genes Dev 26(8):816-29. [PubMed: 22465952]  [MGI Ref ID J:183940]

Winau F; Weber S; Sad S; de Diego J; Hoops SL; Breiden B; Sandhoff K; Brinkmann V; Kaufmann SH; Schaible UE. 2006. Apoptotic vesicles crossprime CD8 T cells and protect against tuberculosis. Immunity 24(1):105-17. [PubMed: 16413927]  [MGI Ref ID J:113317]

Xu YH; Sun Y; Ran H; Quinn B; Witte D; Grabowski GA. 2011. Accumulation and distribution of alpha-synuclein and ubiquitin in the CNS of Gaucher disease mouse models. Mol Genet Metab 102(4):436-47. [PubMed: 21257328]  [MGI Ref ID J:170601]

Zhou D; Cantu C rd; Sagiv Y; Schrantz N; Kulkarni AB; Qi X; Mahuran DJ; Morales CR; Grabowski GA; Benlagha K; Savage P; Bendelac A; Teyton L. 2004. Editing of CD1d-bound lipid antigens by endosomal lipid transfer proteins. Science 303(5657):523-7. [PubMed: 14684827]  [MGI Ref ID J:90443]

Health & husbandry

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.

Health & Colony Maintenance Information

Animal Health Reports

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

Colony Maintenance

Breeding & HusbandryWhen maintaining a live colony, this mutant can be maintained by breeding heterozygous siblings or by mating heterozygous mice to C57BL/6J. Almost 50% of homozygotes die in utero or shortly after birth. Expected coat color from breeding:Black

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.

Control Information

  Control
   Wild-type from the colony
   000664 C57BL/6J
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.


See Terms of Use tab for General Terms and Conditions


The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.
Ordering Information
JAX® Mice
Surgical and Preconditioning Services
JAX® Services
Customer Services and Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
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Terms of Use

Terms of Use


General Terms and Conditions


Contact information

General inquiries regarding Terms of Use

Contracts Administration

phone:207-288-6470

JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.


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