Strain Name:

RSV/LeJ

Stock Number:

000268

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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 Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Type Inbred Strain;
Additional information on Inbred Strains.
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Specieslaboratory mouse
GenerationF131p
Generation Definitions

Appearance
Re: agouti with curly whiskers and wavy coat
Related Genotype: A/A Re/Re +/+ +/+

Re and Mcoln3Va: grey with white spotting, curly whiskers, and wavy coat
Related Genotype: A/A Re/Re +/+ Mcoln3Va/+

Re, Sd and Mcoln3Va: grey with white spotting, curly whiskers, wavy coat, and short tail
Related Genotype: A/A Re/Re Sd/+ Mcoln3Va/+

Re, Sd and Mcoln3Va: white with agouti patches at ears and tail base, curly whiskers, wavy coat, and short tail
Related Genotype: A/A Re/Re Sd/+ Mclon3Va/Mclon3Va

Re and Sd: agouti with curly whiskers, wavy coat and short tail
Related Genotype: A/A Re/Re Sd/+ +/+

Important Note
This strain is homozygous for Re and segregating for Sd and Mcoln3Va.

Description
Mice heterozygous for the varitint-waddler spontaneous mutation (Mcoln3Va) are deaf and show circling behavior, head-tossing, and hyperactivity. Heterozygotes circle somewhat less than some of the other circling mutants. Their coats are variegated with patches of normal-colored, diluted, and white fur. Homozygotes show more intense behavioral abnormalities than heterozygotes, and their coats are white, except for small patches of unaltered color near the ears and base of the tail. The pathological changes in heterozygotes include degeneration of the organ of Corti, stria vascularis, spiral ganglion, saccular macula, cristae ampullares, and vestibular ganglion. In homozygotes the degenerative changes are more severe and also include the utricular macula. Viability of heterozygotes is nearly normal, but fertility is reduced. Mortality is very high in homozygotes, and very few of the survivors are fertile. Compound heterozygotes for the two alleles (Mcoln3Va-J/Mcoln3Va) are similar to Mcoln3Va-J/Mcoln3Va-J mice but are smaller with more white spotting and abnormal behavior. They are deaf and circle vigorously. Viability and fertility of Mcoln3Va-J/Mcoln3Va mice are considerably reduced. This strain is also homozygous for the rex spontaneous mutation (Re) and segregating for Danforth's short tail (Sd).

Development
Varitint waddler (Mcoln3Va) arose spontaneously at The Jackson Laboratory in 1942 in a cross between C57BL (black) and C57BR (brown) strains which had been separated by over 100 generations of inbreeding. Some of the F1 females of this cross were backcrossed to the C57BL parent male and one such mating produced the first varitint waddler male. Following the Bar Harbor fire of 1947 the Mcoln3Va mutation was returned to The Jackson Laboratory in 1950 from T. C. Carter at Edinburgh in a linkage testing stock called E1 and containing rex (Re), Danforth's short tail (Sd), and varitint waddler. This E1 stock was then outcrossed to C57BL/6J 3 times before 2 non-sibling matings were done then followed by 2 outcrosses to C3H/He then one outcross to CBA. The stock was then closed colony sibling and non-sibling mated until 1970. It was then named RSV/Le and sibling mated, reaching F55 in 1989. This strain was cryopreserved in 1989 using embryos generated by mating mice homozygous for rex and segregating for varitint waddler and Danforth's short tail. In 2005 this strain reached F127.

Control Information

  Control
   None Available
   Wild-type from the colony
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Etn2Sd allele
000126   B6By.Cg-Etn2Sd Mcoln3Va-J Krt25Re/J
View Strains carrying   Etn2Sd     (1 strain)

Strains carrying   Krt25Re allele
000568   B6.Cg-Pmp22Tr-J Krt25Re/+ +/J
000126   B6By.Cg-Etn2Sd Mcoln3Va-J Krt25Re/J
View Strains carrying   Krt25Re     (2 strains)

Strains carrying   Mcoln3Va allele
000071   B6.Cg-Mcoln3Va/J
View Strains carrying   Mcoln3Va     (1 strain)

Strains carrying   Pde6brd1 allele
004202   B6.C3 Pde6brd1 Hps4le/+ +-Lmx1adr-8J/J
000002   B6.C3-Pde6brd1 Hps4le/J
001022   B6C3FeF1/J a/a
000652   BDP/J
000653   BUB/BnJ
002439   C3.129P2(B6)-B2mtm1Unc/J
005494   C3.129S1(B6)-Grm1rcw/J
000509   C3.Cg-Lystbg-2J/J
000480   C3.MRL-Faslpr/J
001957   C3A Pde6brd1.O20/A-Prph2Rd2/J
004326   C3Bir.129P2(B6)-Il10tm1Cgn/Lt
003968   C3Bir.129P2(B6)-Il10tm1Cgn/LtJ
006435   C3Fe.SW-Soaa/MonJ
001904   C3H-Atcayji-hes/J
000659   C3H/HeJ
000511   C3H/HeJ-Ap3d1mh-2J/J
000784   C3H/HeJ-Faslgld/J
002433   C3H/HeJ-Sptbn4qv-lnd2J/J
005972   C3H/HeJBirLtJ
001824   C3H/HeJSxJ
000635   C3H/HeOuJ
000474   C3H/HeSn
001431   C3H/HeSn-ocd/J
000661   C3H/HeSnJ
002333   C3H/HeSnJ-gri/J
001576   C3He-Atp7btx-J/J
000658   C3HeB/FeJ
002588   C3HeB/FeJ-Eya1bor/J
001533   C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J
001908   C3HfB/BiJ
001502   C3Sn.B6-Epha4rb/EiGrsrJ
002235   C3Sn.C3-Ctnna2cdf/J
001547   C3Sn.Cg-Cm/J
001906   C3fBAnl.Cg-Catb/AnlJ
000656   CBA/J
000813   CBA/J-Atp7aMo-pew/J
000660   DA/HuSnJ
000023   FL/1ReJ
000025   FL/4ReJ
003024   FVB.129P2(B6)-Fmr1tm1Cgr/J
002539   FVB.129P2-Abcb4tm1Bor/J
002935   FVB.129S2(B6)-Ccnd1tm1Wbg/J
002953   FVB.Cg-Tg(MMTVTGFA)254Rjc/J
003170   FVB.Cg-Tg(Myh6-tTA)6Smbf/J
003078   FVB.Cg-Tg(WapIgf1)39Dlr/J
003487   FVB.Cg-Tg(XGFAP-lacZ)3Mes/J
003257   FVB/N-Tg(GFAPGFP)14Mes/J
002856   FVB/N-Tg(TIE2-lacZ)182Sato/J
002384   FVB/N-Tg(UcpDta)1Kz/J
001800   FVB/NJ
001491   FVB/NMob
000804   HPG/BmJ
000734   MOLD/RkJ
000550   MOLF/EiJ
002423   NON/ShiLtJ
000679   P/J
000680   PL/J
000269   SB/LeJ
010968   SB;C3Sn-Lrp4mdig-2J/GrsrJ
005651   SJL.AK-Thy1a/TseJ
000686   SJL/J
000688   ST/bJ
004808   STOCK Mapttm1(EGFP)Klt Tg(MAPT)8cPdav/J
002648   STOCK a/a Cln6nclf/J
000279   STOCK gr +/+ Ap3d1mh/J
005965   STOCK Tg(Pomc1-cre)16Lowl/J
004770   SW.B6-Soab/J
002023   SWR.M-Emv21 Emv22/J
000689   SWR/J
000939   SWR/J-Clcn1adr-mto/J
000692   WB/ReJ KitW/J
100410   WBB6F1/J-KitW/KitW-v/J
000693   WC/ReJ KitlSl/J
View Strains carrying   Pde6brd1     (73 strains)

Strains carrying other alleles of Mcoln3
000126   B6By.Cg-Etn2Sd Mcoln3Va-J Krt25Re/J
000296   B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
View Strains carrying other alleles of Mcoln3     (2 strains)

View Strains carrying other alleles of Pde6b     (13 strains)

Phenotype

Phenotype Information

View Phenotypic Data

Phenotypic Data
Mouse Phenome Database
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.
Night Blindness, Congenital Stationary, Autosomal Dominant 2; CSNBAD2   (PDE6B)
Retinitis Pigmentosa 40; RP40   (PDE6B)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain.

Etn2Sd/Etn2+

        B6By.Cg-Etn2Sd Mcoln3Va-J Krt25Re/J
  • limbs/digits/tail phenotype
  • decreased caudal vertebrae number
    • truncation at the caudal vertebrae is observed   (MGI Ref ID J:105155)
  • short tail
    • heterozygotes have shorter tails   (MGI Ref ID J:105155)
  • skeleton phenotype
  • abnormal intervertebral disk morphology
    • intervertebral disks are occupied by peripheral fibers similar to those in annulus fibrosus, and no nucleus pulposus is found   (MGI Ref ID J:105155)
    • abnormal nucleus pulposus morphology
      • degeneration of nucleus is observed occasionally   (MGI Ref ID J:105155)
  • abnormal vertebrae number
    • variable number of vertebrae observed in heterozygotes   (MGI Ref ID J:105155)
    • decreased caudal vertebrae number
      • truncation at the caudal vertebrae is observed   (MGI Ref ID J:105155)
  • short vertebral column
    • vertebral column is truncated at ~sixth caudal vertebral body   (MGI Ref ID J:105155)

Etn2Sd/Etn2+

        involves: NMRI
  • skeleton phenotype
  • abnormal vertebrae morphology
    • mice show obvious defects up to the lower lumbar levels at E16.5   (MGI Ref ID J:49126)
    • abnormal caudal vertebrae morphology
      • vertebrae at caudal level are malformed   (MGI Ref ID J:49126)
      • absent caudal vertebrae
        • most caudal vertebrae are completely deleted   (MGI Ref ID J:49126)
    • abnormal cervical axis morphology
      • vertebrae lack ossification center in centrum of the axis   (MGI Ref ID J:49126)
      • abnormal odontoid process morphology
        • severely reduced or missing dens axis (cranial protrusion of second cervical vertebra) at E16.5   (MGI Ref ID J:49126)
    • abnormal lumbar vertebrae morphology   (MGI Ref ID J:49126)
    • abnormal sacral vertebrae morphology
      • vertebrae are severely malformed in animals at E16.5   (MGI Ref ID J:49126)
      • absent sacral vertebrae
        • sacral level vertebrae may be partially or totally deleted ventrally   (MGI Ref ID J:49126)
    • abnormal vertebral body morphology   (MGI Ref ID J:49126)
  • limbs/digits/tail phenotype
  • abnormal caudal vertebrae morphology
    • vertebrae at caudal level are malformed   (MGI Ref ID J:49126)
    • absent caudal vertebrae
      • most caudal vertebrae are completely deleted   (MGI Ref ID J:49126)
  • short tail
    • tail lengths fall into three groups: group 1 animals have no tails or short, filamentous tail remnants, group 2 animals have tails between 1 and 2 cm in length, and group 3 animals have tails longer than 2 cm   (MGI Ref ID J:49126)
    • 26%, 48%, and 26% of heterozygotes with mutations in cis fall into groups1, 2, and 3 respectively   (MGI Ref ID J:49126)

Etn2Sd/Etn2+

        involves: Danforth's duplication stock
  • mortality/aging
  • partial preweaning lethality
    • nearly 70% of animals die prior to weaning age with heaviest mortality between 5 and 10 days of age   (MGI Ref ID J:13055)
  • limbs/digits/tail phenotype
  • absent tail
    • some mice lack a tail completely or have a non-bondy filament of skin and connective tissue   (MGI Ref ID J:13055)
    • tail length decreases with increased numbers of backcrosses to Bagg albino; absent tail is more frequent with increased backcrosses   (MGI Ref ID J:13055)
  • short tail
    • some mice show either a short stump or a short tail ending in a contorted filamament, with total length not exceeding one half then length of a wild-type tail   (MGI Ref ID J:13055)
    • tail length decreases with increased numbers of backcrosses to Bagg albino; absent tail is more frequent with increased backcrosses   (MGI Ref ID J:13055)
  • skeleton phenotype
  • abnormal sacral vertebrae morphology
    • sacral region often appears shortened due to vertebral malformations   (MGI Ref ID J:13055)
  • abnormal spine curvature
    • mice occasionally have crooked spines   (MGI Ref ID J:13055)
    • lordosis
      • occasionally found   (MGI Ref ID J:13055)
    • scoliosis
      • occasionally found   (MGI Ref ID J:13055)
  • renal/urinary system phenotype
  • absent kidney
    • both kidneys may be missing   (MGI Ref ID J:13055)
  • single kidney
    • one kidney may be missing   (MGI Ref ID J:13055)
  • small kidney
    • when present kidneys are small   (MGI Ref ID J:13055)

Etn2Sd/Etn2+

        B6.Cg-Etn2Sd
  • skeleton phenotype
  • abnormal cervical vertebrae morphology
    • hypoplasia of the dens of the cervical vertebral bodies   (MGI Ref ID J:195133)
  • abnormal nucleus pulposus morphology   (MGI Ref ID J:195133)
  • abnormal sacrum morphology
    • partial sacral defects that develop before birth and sacral hypoplasia   (MGI Ref ID J:195133)
  • abnormal vertebral body morphology
    • hypoplasia of the dens of the cervical vertebral bodies   (MGI Ref ID J:195133)
  • axial skeleton hypoplasia
    • less severe than in homozygotes   (MGI Ref ID J:195133)
  • intervertebral disk hypoplasia   (MGI Ref ID J:195133)
  • limbs/digits/tail phenotype
  • short tail
    • less severe than in homozygotes   (MGI Ref ID J:195133)
  • growth/size/body phenotype
  • decreased body length   (MGI Ref ID J:195133)
  • digestive/alimentary phenotype
  • anal stenosis   (MGI Ref ID J:195133)
  • renal/urinary system phenotype
  • renal hypoplasia   (MGI Ref ID J:195133)

Etn2Sd/Etn2Sd

        involves: Danforth's duplication stock
  • mortality/aging
  • complete neonatal lethality
    • tailless, abnormal-appearing pups all die within 18-24 hours of birth; normal numbers appear to survive entire developmental period   (MGI Ref ID J:13055)
  • skeleton phenotype
  • absent vertebrae
    • in most animals, all vertebrae posterior to the second lumbar are missing   (MGI Ref ID J:13055)
  • short vertebral column
    • in all animals, vertebral column is extremely short, ending in lumbar region   (MGI Ref ID J:13055)
  • limbs/digits/tail phenotype
  • absent tail
    • ~25% of offspring from heterozygous crosses are tailless   (MGI Ref ID J:13055)
  • nervous system phenotype
  • spina bifida
    • frequently mice show a lesion (ie hematoma) as symptom of spina bifida   (MGI Ref ID J:13055)
  • renal/urinary system phenotype
  • abnormal renal/urinary system morphology
    • bladder and urethra are present in some animals, and absent in others   (MGI Ref ID J:13055)
    • absent kidney
      • kidneys are entirely absent   (MGI Ref ID J:13055)
    • absent urethra
      • in some mice   (MGI Ref ID J:13055)
    • absent urinary bladder
      • in some mice   (MGI Ref ID J:13055)
    • persistent cloaca
      • homozygotes all display a cloaca   (MGI Ref ID J:13055)
  • reproductive system phenotype
  • abnormal reproductive system morphology
    • neonates either have no genital papilla or barely discernable ones, making male/female determinations not possible   (MGI Ref ID J:13055)
    • persistent cloaca
      • homozygotes all display a cloaca   (MGI Ref ID J:13055)
  • digestive/alimentary phenotype
  • anal atresia
    • homozygotes always display an imperforate anus   (MGI Ref ID J:13055)
  • persistent cloaca
    • homozygotes all display a cloaca   (MGI Ref ID J:13055)
  • cardiovascular system phenotype
  • hematoma
    • associated with spina bifida   (MGI Ref ID J:13055)
  • embryogenesis phenotype
  • spina bifida
    • frequently mice show a lesion (ie hematoma) as symptom of spina bifida   (MGI Ref ID J:13055)

Etn2Sd/Etn2Sd

        B6.Cg-Etn2Sd
  • mortality/aging
  • complete neonatal lethality   (MGI Ref ID J:195133)
  • skeleton phenotype
  • abnormal nucleus pulposus morphology   (MGI Ref ID J:195133)
  • axial skeleton hypoplasia
    • more severe than in heterozygotes   (MGI Ref ID J:195133)
  • intervertebral disk hypoplasia   (MGI Ref ID J:195133)
  • respiratory system phenotype
  • abnormal breathing pattern
    • no sign of breathing after birth   (MGI Ref ID J:195133)
  • primary atelectasis   (MGI Ref ID J:195133)
  • digestive/alimentary phenotype
  • anal atresia
    • blind-end-type anorectal malformation   (MGI Ref ID J:195133)
  • growth/size/body phenotype
  • decreased body length
    • more severe than in heterozygotes   (MGI Ref ID J:195133)
  • limbs/digits/tail phenotype
  • short tail
    • more severe than in heterozygotes   (MGI Ref ID J:195133)
  • renal/urinary system phenotype
  • absent kidney   (MGI Ref ID J:195133)

Krt25Re/Krt25Re

        B6.Cg-Pmp22Tr-J Krt25Re/+ +/J
  • growth/size/body phenotype
  • decreased body size   (MGI Ref ID J:130100)
  • endocrine/exocrine gland phenotype
  • enlarged sebaceous gland   (MGI Ref ID J:130100)
  • integument phenotype
  • abnormal hair follicle morphology
    • at 1 month, hair follicles are bent and shorter than in wild-type mice   (MGI Ref ID J:130100)
  • abnormal hair shaft morphology
    • at 1 month, hair shafts are fragile   (MGI Ref ID J:130100)
  • curly vibrissae
    • beginning at 1 month of age, whiskers are irregular and fragile   (MGI Ref ID J:130100)
  • enlarged sebaceous gland   (MGI Ref ID J:130100)
  • waved hair
    • beginning at 1 month of age pelage is wavy compared to wild-type mice but this waviness becomes weaker as mice age   (MGI Ref ID J:130100)

Mcoln3Va/Mcoln3+

        involves: C57BL * C57BR
  • hearing/vestibular/ear phenotype
  • deafness   (MGI Ref ID J:13133)
  • increased or absent threshold for auditory brainstem response
    • at 2 weeks of age heterozygotes only return positive waveforms to an 8 kHz stimulus at 95 dB and by 3 weeks of age there is no response to click or 32 kHz stimuli   (MGI Ref ID J:78812)
  • behavior/neurological phenotype
  • abnormal locomotor coordination
    • waddling "duck like" walk   (MGI Ref ID J:13133)
  • abnormal maternal nurturing
    • neglect their young and trample pups   (MGI Ref ID J:13133)
  • circling
    • mixed circling habits are present as early as 14 days after birth   (MGI Ref ID J:13133)
  • head tossing
    • choreic head movements   (MGI Ref ID J:13133)
  • hyperactivity
    • usually in motion when not asleep, nodding and tossing their heads   (MGI Ref ID J:13133)
  • jumpy
    • in reaction to sudden jarring   (MGI Ref ID J:13133)
  • tonic seizures
    • a convulsive stiffening of the body in reaction ot sudden jarring   (MGI Ref ID J:13133)
  • nervous system phenotype
  • tonic seizures
    • a convulsive stiffening of the body in reaction ot sudden jarring   (MGI Ref ID J:13133)
  • pigmentation phenotype
  • diluted coat color   (MGI Ref ID J:78812)
  • variegated coat color
    • with patches of normal-colored, diluted, and white fur   (MGI Ref ID J:13133)
    • mottled coat
      • coat color is more dilute and mottled than in Va-J heterozygotes, with an entirely white ventrum and a large white spot on the forehead   (MGI Ref ID J:78812)
  • white spotting   (MGI Ref ID J:78812)
    • head spot   (MGI Ref ID J:78812)
  • reproductive system phenotype
  • reduced fertility
    • some of the heterozygous mice, especially the males are sterile   (MGI Ref ID J:13133)
  • integument phenotype
  • diluted coat color   (MGI Ref ID J:78812)
  • variegated coat color
    • with patches of normal-colored, diluted, and white fur   (MGI Ref ID J:13133)
    • mottled coat
      • coat color is more dilute and mottled than in Va-J heterozygotes, with an entirely white ventrum and a large white spot on the forehead   (MGI Ref ID J:78812)
  • white spotting   (MGI Ref ID J:78812)
    • head spot   (MGI Ref ID J:78812)

Mcoln3Va/Mcoln3+

        mixed
  • behavior/neurological phenotype
  • impaired coordination
    • a marked inability to negotiate a narrow bridge at two or three days before their eyes open   (MGI Ref ID J:13046)
  • impaired swimming
    • elderly heterozygous mice over 10 months old cannot swim   (MGI Ref ID J:13046)
  • hearing/vestibular/ear phenotype
  • abnormal cochlear hair cell morphology
    • unequal size of the hair cells by 11 day   (MGI Ref ID J:13046)
    • cochlear hair cell degeneration
      • some of hair cells disappear entirely by the 17th day   (MGI Ref ID J:13046)
      • the others are drastically reduced   (MGI Ref ID J:13046)
  • abnormal crista ampullaris morphology
    • at age of 25 days the hairs have mostly disappeared   (MGI Ref ID J:13046)
    • the gelatinous cupula remains   (MGI Ref ID J:13046)
  • abnormal stria vascularis morphology
    • becomes distinctly abnormal at the age of 17 days   (MGI Ref ID J:13046)
    • nuclei becomes rounded and later lose their cytoplasmic processes   (MGI Ref ID J:13046)
  • detached tectorial membrane
    • loses all contact with the organ of Corti by 7 days   (MGI Ref ID J:13046)
    • remain detached from the organ of Corti and later shrivels up   (MGI Ref ID J:13046)
  • enlarged tectorial membrane
    • staring 4 days of age   (MGI Ref ID J:13046)
    • the tectorial membrane in mutant mice forms a big bulge instead of forming a thin strand of the outer marginal zone   (MGI Ref ID J:13046)
  • nervous system phenotype
  • abnormal cochlear hair cell morphology
    • unequal size of the hair cells by 11 day   (MGI Ref ID J:13046)
    • cochlear hair cell degeneration
      • some of hair cells disappear entirely by the 17th day   (MGI Ref ID J:13046)
      • the others are drastically reduced   (MGI Ref ID J:13046)
  • abnormal vestibular ganglion morphology
    • the average cell size in the vestibular ganglion is reduced   (MGI Ref ID J:13046)
  • abnormal vestibulocochlear ganglion morphology
    • a change in the shape of the cells and their nuclei are seen starting at the age of 6 days   (MGI Ref ID J:13046)
  • cochlear ganglion degeneration
    • a reduction in cell size and density by 9 days   (MGI Ref ID J:13046)
    • destruction of nerve cells through life   (MGI Ref ID J:13046)

Mcoln3Va/Mcoln3Va

        involves: C57BL * C57BR
  • mortality/aging
  • partial prenatal lethality
    • mortality is very high in homozygotes, and very few of the survivors are fertile   (MGI Ref ID J:13133)
  • hearing/vestibular/ear phenotype
  • deafness   (MGI Ref ID J:13133)
  • behavior/neurological phenotype
  • abnormal locomotor coordination
    • waddling "duck like" walk   (MGI Ref ID J:13133)
    • Homozygotes show more intense behavioral abnormalities than heterozygotes   (MGI Ref ID J:13133)
  • abnormal maternal nurturing
    • neglect their young and trample pups   (MGI Ref ID J:13133)
  • circling
    • mixed circling habits are present as early as 14 days after birth   (MGI Ref ID J:13133)
    • Homozygotes show more intense behavioral abnormalities than heterozygotes   (MGI Ref ID J:13133)
  • head tossing
    • Homozygotes show more intense behavioral abnormalities than heterozygotes   (MGI Ref ID J:13133)
  • hyperactivity
    • usually in motion when not asleep, nodding and tossing their heads   (MGI Ref ID J:13133)
    • Homozygotes show more intense behavioral abnormalities than heterozygotes   (MGI Ref ID J:13133)
  • jumpy
    • in reaction to sudden jarring   (MGI Ref ID J:13133)
    • Homozygotes show more intense behavioral abnormalities than heterozygotes   (MGI Ref ID J:13133)
  • tonic seizures
    • a convulsive stiffening of the body in reaction to sudden jarring   (MGI Ref ID J:13133)
    • Homozygotes show more intense behavioral abnormalities than heterozygotes   (MGI Ref ID J:13133)
  • nervous system phenotype
  • tonic seizures
    • a convulsive stiffening of the body in reaction to sudden jarring   (MGI Ref ID J:13133)
    • Homozygotes show more intense behavioral abnormalities than heterozygotes   (MGI Ref ID J:13133)
  • pigmentation phenotype
  • variegated coat color
    • their coats are white, except for small patches of unaltered color near the ears and base of the tail   (MGI Ref ID J:13133)
  • reproductive system phenotype
  • reduced fertility
    • very few of the survivors are fertile   (MGI Ref ID J:13133)
  • integument phenotype
  • variegated coat color
    • their coats are white, except for small patches of unaltered color near the ears and base of the tail   (MGI Ref ID J:13133)

Mcoln3Va/Mcoln3Va

        mixed
  • mortality/aging
  • partial prenatal lethality
    • mortality is very high in homozygotes   (MGI Ref ID J:13046)
  • behavior/neurological phenotype
  • impaired righting response
    • often homozygous do not right themselves   (MGI Ref ID J:13046)
  • hearing/vestibular/ear phenotype
  • abnormal crista ampullaris morphology
    • at age of 25 days the hairs have mostly disappeared   (MGI Ref ID J:13046)
    • the gelatinous cupula remains   (MGI Ref ID J:13046)
    • more severely affected than heterozygous mice   (MGI Ref ID J:13046)
  • abnormal stria vascularis morphology
    • becomes distinctly abnormal at the age of 17 days   (MGI Ref ID J:13046)
    • nuclei becomes rounded and later lose their cytoplasmic processes   (MGI Ref ID J:13046)
    • more severely affected than heterozygous mice   (MGI Ref ID J:13046)
  • cochlear hair cell degeneration
    • at 35 days the hair cells are gone   (MGI Ref ID J:13046)
    • the cells of Deiter are still present and not dedifferentiated   (MGI Ref ID J:13046)
  • detached tectorial membrane
    • loses all contact with the organ of Corti by 7 days   (MGI Ref ID J:13046)
    • remain detached from the organ of Corti and later shrivels up   (MGI Ref ID J:13046)
    • more severely affected than heterozygous mice   (MGI Ref ID J:13046)
  • enlarged tectorial membrane
    • staring 4 days of age   (MGI Ref ID J:13046)
    • the tectorial membrane in mutant mice forms a big bulge instead of forming a thin strand of the outer marginal zone   (MGI Ref ID J:13046)
    • more severely affected than heterozygous mice   (MGI Ref ID J:13046)
  • nervous system phenotype
  • abnormal vestibular ganglion morphology
    • the average cell size in the vestibular ganglion is reduced   (MGI Ref ID J:13046)
    • more severely affected than heterozygous mice   (MGI Ref ID J:13046)
  • abnormal vestibulocochlear ganglion morphology
    • a change in the shape of the cells and their nuclei are seen starting at the age of 6 days   (MGI Ref ID J:13046)
    • more severely affected than heterozygous mice   (MGI Ref ID J:13046)
  • cochlear ganglion degeneration
    • a reduction in cell size and density by 9 days   (MGI Ref ID J:13046)
    • destruction of nerve cells through life   (MGI Ref ID J:13046)
    • more severely affected than heterozygous mice and degeneration is quicker   (MGI Ref ID J:13046)
  • cochlear hair cell degeneration
    • at 35 days the hair cells are gone   (MGI Ref ID J:13046)
    • the cells of Deiter are still present and not dedifferentiated   (MGI Ref ID J:13046)
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Research Applications
This mouse can be used to support research in many areas including:

Etn2Sd related

Developmental Biology Research
Internal/Organ Defects
      urogenital
Skeletal Defects

Internal/Organ Research
Kidney Defects

Krt25Re related

Dermatology Research
Skin and Hair Texture Defects

Mcoln3Va related
Color and White Spotting Defects

Neurobiology Research
Hearing Defects
Vestibular Defects

Sensorineural Research
Hearing Defects
Vestibular Defects

Pde6brd1 related
Retinal Degeneration

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Etn2Sd
Allele Name short Danforth
Allele Type Spontaneous
Common Name(s) Sd(short-Danforth);
Strain of OriginDanforth's posterior duplication stock
Gene Symbol and Name Etn2, early transposon element 2
Chromosome 2
Gene Common Name(s) Danforth's short tail; Sd;
General Note Phenotypic Similarity to Human Syndrome: Caudal regression syndrome (J:195133)
Molecular Note A retrotransposon highly homologous to murine early transposon (ETn) endogenous retrovirus (ERV) 3 (ETnERV3) inserted 12 kb upstream of Ptf1a resulting in over-expression. The transposon insertion also results in the over-expression of Gm13344 and Gm13336. [MGI Ref ID J:195133] [MGI Ref ID J:195196] [MGI Ref ID J:195197]
 
Allele Symbol Krt25Re
Allele Name rex
Allele Type Spontaneous
Common Name(s) Re;
Strain of OriginOutbred
Gene Symbol and Name Krt25, keratin 25
Chromosome 11
Gene Common Name(s) 4631426H08Rik; KRT25A; Ka38; RIKEN cDNA 4631426H08 gene; mIRSa1;
Molecular Note This allele contains a nucleotide substitution that results in an amino acid substitution of proline for leucine at position 381 (L381P). [MGI Ref ID J:130100]
 
Allele Symbol Mcoln3Va
Allele Name varitint waddler
Allele Type Spontaneous
Common Name(s) TRPML3Va; Va;
Strain of Origin(C57BL x C57BR)F1
Gene Symbol and Name Mcoln3, mucolipin 3
Chromosome 3
Gene Common Name(s) 6720490O21Rik; RIKEN cDNA 6720490O21 gene; TRP-ML3; TRPML3; Va; varitint-waddler;
Molecular Note The mutation in the Va mouse is a G-to-C transversion at nucleotide 1255 within exon 10. This results in a change from alanine to proline at amino acid 419 which is in the fifth transmembrane domain. [MGI Ref ID J:80336]
 
Allele Symbol Pde6brd1
Allele Name retinal degeneration 1
Allele Type Spontaneous
Common Name(s) Pdebrd1; rd; rd-1; rd1; rodless retina;
Strain of Originvarious
Gene Symbol and Name Pde6b, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide
Chromosome 5
Gene Common Name(s) CSNB3; CSNBAD2; PDEB; Pdeb; RP40; nmf137; phosphodiesterase, cGMP, rod receptor, beta polypeptide; r; rd; rd-1; rd1; rd10; retinal degeneration; retinal degeneration 1; retinal degeneration 10;
General Note The following inbred strains are known to be homozygous for Pde6b: C3H sublines, CBA/J, FVB/NJ, PL/J, SB, SJL/J, and SWR/J.
Molecular Note Two mutations have been identified in rd1 mice. A murine leukimia virus (Xmv-28) insertion in reverse orientation in intron 1 is found in all mouse strains with the rd1 phenotype. Further, a nonsense mutation (C to A transversion) in codon 347 that results in a truncation eliminating more than half of the predicted encoded protein, including the catalytic domain has also been identified in all rd1 strains of mice. A specific degradation of mutant transcript during or after pre-mRNA splicing is suggested. [MGI Ref ID J:11513] [MGI Ref ID J:4366] [MGI Ref ID J:51361]

Genotyping

Genotyping Information


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References

References provided by MGI

Additional References

Di Palma F; Belyantseva IA; Kim HJ; Vogt TF; Kachar B; Noben-Trauth K. 2002. Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice. Proc Natl Acad Sci U S A 99(23):14994-9. [PubMed: 12403827]  [MGI Ref ID J:80336]

Kim HJ; Jackson T; Noben-Trauth K. 2003. Genetic analyses of the mouse deafness mutations varitint-waddler (va) and jerker (espnje). J Assoc Res Otolaryngol 4(1):83-90. [PubMed: 12209292]  [MGI Ref ID J:78812]

Etn2Sd related

Ando T; Semba K; Suda H; Sei A; Mizuta H; Araki M; Abe K; Imai K; Nakagata N; Araki K; Yamamura K. 2011. The floor plate is sufficient for development of the sclerotome and spine without the notochord. Mech Dev 128(1-2):129-40. [PubMed: 21111815]  [MGI Ref ID J:170250]

Bovolenta P; Dodd J. 1991. Perturbation of neuronal differentiation and axon guidance in the spinal cord of mouse embryos lacking a floor plate: analysis of Danforth's short-tail mutation. Development 113(2):625-39. [PubMed: 1782870]  [MGI Ref ID J:78]

Danforth CH. 1930. Developmental anomalies in a special strain of mice Am J Anat 45(2):275-87.  [MGI Ref ID J:25356]

Dietrich S; Schubert FR; Gruss P. 1993. Altered Pax gene expression in murine notochord mutants: the notochord is required to initiate and maintain ventral identity in the somite. Mech Dev 44(2-3):189-207. [PubMed: 8155581]  [MGI Ref ID J:16484]

Dietrich S; Schubert FR; Gruss P; Lumsden A. 1999. The role of the notochord for epaxial myotome formation in the mouse. Cell Mol Biol (Noisy-le-grand) 45(5):601-16. [PubMed: 10512192]  [MGI Ref ID J:59749]

Dunn LC; Gluecksohn-Schoenheimer S; Bryson V. 1940. A new mutation in the mouse affecting spinal column and urogenital system. J Hered 31:343-348.  [MGI Ref ID J:13055]

Favre A; Briano S; Mazzola C; Brizzolara A; Torre M; Cilli M; Sanguineti M; Martucciello G. 1999. Anorectal malformations associated with enteric dysganglionosis in Danforth's short tail (Sd) mice. J Pediatr Surg 34(12):1818-21. [PubMed: 10626862]  [MGI Ref ID J:60065]

GRUNEBERG H. 1958. Genetical studies on the skeleton of the mouse. XXII. The development of Danforth's short-tail. J Embryol Exp Morphol 6(1):124-48. [PubMed: 13539275]  [MGI Ref ID J:12994]

Gluecksohn-Schoenheimer S. 1943. The Morphological Manifestations of a Dominant Mutation in Mice Affecting Tail and Urogenital System. Genetics 28(4):341-8. [PubMed: 17247092]  [MGI Ref ID J:12956]

Gluecksohn-Waelsch S; Rota TR. 1963. Development in organ tissue culture of kidney rudiments from mutant mouse embryos. Dev Biol 7:432-444. [PubMed: 13948549]  [MGI Ref ID J:12723]

Gruneberg H. 1953. Genetical studies on the skeleton of the mouse. VI. Danforth's short tail J Genet 51:317-26.  [MGI Ref ID J:30757]

Hemre KM; Keller-Peck CR; Campbell RM; Peterson AC; Mullen RJ; Goldowitz D. 1996. Annexin IV is a marker of roof and floor plate development in the murine CNS. J Comp Neurol 368(4):527-37. [PubMed: 8744441]  [MGI Ref ID J:32805]

Hoornbeek FK; Adams MJ. 1975. Modification toward dominance of a recessive lethal in the mouse. J Hered 66(3):124-6. [PubMed: 1176758]  [MGI Ref ID J:36966]

Johnson DR. 1976. The interfrontal bone and mutant genes in the mouse. J Anat 121(3):507-13. [PubMed: 1018005]  [MGI Ref ID J:5776]

Kispert A; Vainio S; Shen L; Rowitch DH; McMahon AP. 1996. Proteoglycans are required for maintenance of Wnt-11 expression in the ureter tips. Development 122(11):3627-37. [PubMed: 8951078]  [MGI Ref ID J:36828]

Lugani F; Arora R; Papeta N; Patel A; Zheng Z; Sterken R; Singer RA; Caridi G; Mendelsohn C; Sussel L; Papaioannou VE; Gharavi AG. 2013. A retrotransposon insertion in the 5' regulatory domain of Ptf1a results in ectopic gene expression and multiple congenital defects in Danforth's short tail mouse. PLoS Genet 9(2):e1003206. [PubMed: 23437001]  [MGI Ref ID J:195196]

Maatman R; Zachgo J; Gossler A. 1997. The Danforth's short tail mutation acts cell autonomously in notochord cells and ventral hindgut endoderm. Development 124(20):4019-28. [PubMed: 9374399]  [MGI Ref ID J:43771]

Mesrobian HG; Sulik KK. 1992. Characterization of the upper urinary tract anatomy in the Danforth spontaneous murine mutation. J Urol 148(2 Pt 2):752-5. [PubMed: 1640560]  [MGI Ref ID J:2779]

Nakata M; Takada Y; Hishiki T; Saito T; Terui K; Sato Y; Koseki H; Yoshida H. 2009. Induction of Wnt5a-expressing mesenchymal cells adjacent to the cloacal plate is an essential process for its proximodistal elongation and subsequent anorectal development. Pediatr Res 66(2):149-54. [PubMed: 19390486]  [MGI Ref ID J:151456]

Neubuser A; Koseki H; Balling R. 1995. Characterization and developmental expression of Pax9, a paired-box-containing gene related to Pax1. Dev Biol 170(2):701-16. [PubMed: 7649395]  [MGI Ref ID J:28311]

Ohyama K; Kawano H; Kawamura K. 1997. Localization of extracellular matrix molecules, integrins and their regulators, TGF betas, is correlated with axon pathfinding in the spinal cord of normal and Danforth's short tail mice. Brain Res Dev Brain Res 103(2):143-54. [PubMed: 9427478]  [MGI Ref ID J:44398]

Paavola LG; Wilson DB; Center EM. 1980. Histochemistry of the developing notochord, perichordal sheath and vertebrae in Danforth's short-tail (sd) and normal C57BL/6 mice. J Embryol Exp Morphol 55:227-45. [PubMed: 7373196]  [MGI Ref ID J:6313]

Phelps DE; Dressler GR. 1993. Aberrant expression of Pax-2 in Danforth's short tail (Sd) mice. Dev Biol 157(1):251-8. [PubMed: 8482415]  [MGI Ref ID J:4754]

Pringle NP; Yu WP; Guthrie S; Roelink H; Lumsden A; Peterson AC; Richardson WD. 1996. Determination of neuroepithelial cell fate: induction of the oligodendrocyte lineage by ventral midline cells and sonic hedgehog. Dev Biol 177(1):30-42. [PubMed: 8660874]  [MGI Ref ID J:34199]

Schubert FR; Fainsod A; Gruenbaum Y; Gruss P. 1995. Expression of the novel murine homeobox gene Sax-1 in the developing nervous system. Mech Dev 51(1):99-114. [PubMed: 7669696]  [MGI Ref ID J:26182]

Semba K; Araki K; Li Z; Matsumoto K; Suzuki M; Nakagata N; Takagi K; Takeya M; Yoshinobu K; Araki M; Imai K; Abe K; Yamamura K. 2006. A Novel Murine Gene, Sickle tail, Linked to the Danforth's short tail Locus, Is Required for Normal Development of the Intervertebral Disc. Genetics 172(1):445-56. [PubMed: 16204209]  [MGI Ref ID J:105155]

Semba K; Araki K; Matsumoto K; Suda H; Ando T; Sei A; Mizuta H; Takagi K; Nakahara M; Muta M; Yamada G; Nakagata N; Iida A; Ikegawa S; Nakamura Y; Araki M; Abe K; Yamamura K. 2013. Ectopic expression of Ptf1a induces spinal defects, urogenital defects, and anorectal malformations in Danforth's short tail mice. PLoS Genet 9(2):e1003204. [PubMed: 23436999]  [MGI Ref ID J:195133]

Suda H; Lee KJ; Semba K; Kyushima F; Ando T; Araki M; Araki K; Inomata Y; Yamamura K. 2011. The Skt gene, required for anorectal development, is a candidate for a molecular marker of the cloacal plate. Pediatr Surg Int 27(3):269-73. [PubMed: 21069351]  [MGI Ref ID J:169263]

Vlangos CN; Siuniak AN; Robinson D; Chinnaiyan AM; Lyons RH Jr; Cavalcoli JD; Keegan CE. 2013. Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting Ptf1a expression. PLoS Genet 9(2):e1003205. [PubMed: 23437000]  [MGI Ref ID J:195197]

Wallace ME. 1976. A modifier mapped in the mouse. Genetica 46:529.  [MGI Ref ID J:13366]

Zachgo J; Korn R; Gossler A. 1998. Genetic interactions suggest that Danforth's short tail (Sd) is a gain-of-function mutation. Dev Genet 23(1):86-96. [PubMed: 9706697]  [MGI Ref ID J:49126]

Krt25Re related

CARTER TC; PHILLIPS RJ. 1953. The sex distribution of waved-2, shaker-2 and Rex in the house mouse. Z Indukt Abstamm Vererbungsl 85(4):564-78. [PubMed: 13170359]  [MGI Ref ID J:225]

Carter TC. 1951. Wavy-coated mice: phenotypic interactions and linkage tests between rex and (a) waved-1, (b) waved-2 J Genet 50:268-76.  [MGI Ref ID J:224]

Crew FAE; Auerbach C. 1939. Rex: a dominant autosomal monogenic coat texture character in the mouse J Genet 38:341-44.  [MGI Ref ID J:15328]

Hogan ME; King LE Jr; Sundberg JP. 1995. Defects of pelage hairs in 20 mouse mutations. J Invest Dermatol 104(5 Suppl):31S-32S. [PubMed: 7738386]  [MGI Ref ID J:25255]

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]

Tanaka S; Miura I; Yoshiki A; Kato Y; Yokoyama H; Shinogi A; Masuya H; Wakana S; Tamura M; Shiroishi T. 2007. Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament. Genomics 90(6):703-11. [PubMed: 17920809]  [MGI Ref ID J:130100]

Trigg MJ. 1972. Hair growth in mouse mutants affecting coat texture. J Zool 168:165-198.  [MGI Ref ID J:15247]

Mcoln3Va related

Calderon A; Derr A; Stagner BB; Johnson KR; Martin G; Noben-Trauth K. 2006. Cochlear developmental defect and background-dependent hearing thresholds in the Jackson circler (jc) mutant mouse. Hear Res 221(1-2):44-58. [PubMed: 16962269]  [MGI Ref ID J:113021]

Cloudman AM; Bunker LE. 1945. The varitint-waddler mouse. A dominant mutation in Mus musculus J Hered 36:258-263.  [MGI Ref ID J:13133]

Cools AR. 1972. Asymmetrical spotting and direction of circling in the varitint-waddler mouse. J Hered 63(4):167-71. [PubMed: 5075894]  [MGI Ref ID J:5297]

Deol MS. 1954. The anomalies of the labyrinth of the mutants varitint-waddler, shaker-2 and jerker in the mouse. J Genet 52:562-588.  [MGI Ref ID J:13046]

Di Palma F; Belyantseva IA; Kim HJ; Vogt TF; Kachar B; Noben-Trauth K. 2002. Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice. Proc Natl Acad Sci U S A 99(23):14994-9. [PubMed: 12403827]  [MGI Ref ID J:80336]

Goswami C; Hucho T. 2008. Submembraneous microtubule cytoskeleton: biochemical and functional interplay of TRP channels with the cytoskeleton. FEBS J 275(19):4684-99. [PubMed: 18754773]  [MGI Ref ID J:142459]

Grimm C; Jors S; Heller S. 2009. Life and death of sensory hair cells expressing constitutively active TRPML3. J Biol Chem 284(20):13823-31. [PubMed: 19299509]  [MGI Ref ID J:149916]

KOCHER W. 1960. [Studies on the genetics and pathology of the development of 8 labyrinth mutants (deaf-waltzer-shaker mutants) in the mouse (Mus musculus).] Z Vererbungsl 91:114-40. [PubMed: 13853422]  [MGI Ref ID J:15164]

Kim HJ; Jackson T; Noben-Trauth K. 2003. Genetic analyses of the mouse deafness mutations varitint-waddler (va) and jerker (espnje). J Assoc Res Otolaryngol 4(1):83-90. [PubMed: 12209292]  [MGI Ref ID J:78812]

Lane PW. 1972. Two new mutations in linkage group XVI of the house mouse. Flaky tail and varitint-waddler-J. J Hered 63(3):135-40. [PubMed: 4557539]  [MGI Ref ID J:5286]

Lane PW. 1969. Va<J> - varitint-waddler-Jackson Mouse News Lett 41:32.  [MGI Ref ID J:64107]

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]

Xu H; Delling M; Li L; Dong X; Clapham DE. 2007. Activating mutation in a mucolipin transient receptor potential channel leads to melanocyte loss in varitint-waddler mice. Proc Natl Acad Sci U S A 104(46):18321-6. [PubMed: 17989217]  [MGI Ref ID J:127446]

van Buul PP; Tuinenburg-Bol Raap A; Goudzwaard HJ; Seelen CM; Beechey CV; Natarajan AT; Searle AG. 1991. Cytogenetic characterization of radiosensitive mouse mutants. Mutat Res 251(2):171-9. [PubMed: 1720867]  [MGI Ref ID J:4646]

Pde6brd1 related

Acosta ML; Fletcher EL; Azizoglu S; Foster LE; Farber DB; Kalloniatis M. 2005. Early markers of retinal degeneration in rd/rd mice. Mol Vis 11:717-28. [PubMed: 16163270]  [MGI Ref ID J:103970]

Aftab U; Jiang C; Tucker B; Kim JY; Klassen H; Miljan E; Sinden J; Young M. 2009. Growth kinetics and transplantation of human retinal progenitor cells. Exp Eye Res 89(3):301-10. [PubMed: 19524569]  [MGI Ref ID J:151412]

Ahuja S; Ahuja-Jensen P; Johnson LE; Caffe AR; Abrahamson M; Ekstrom PA; van Veen T. 2008. rd1 Mouse retina shows an imbalance in the activity of cysteine protease cathepsins and their endogenous inhibitor cystatin C. Invest Ophthalmol Vis Sci 49(3):1089-96. [PubMed: 18326735]  [MGI Ref ID J:133024]

Ahuja-Jensen P; Johnsen-Soriano S; Ahuja S; Bosch-Morell F; Sancho-Tello M; Romero FJ; Abrahamson M; van Veen T. 2007. Low glutathione peroxidase in rd1 mouse retina increases oxidative stress and proteases. Neuroreport 18(8):797-801. [PubMed: 17471069]  [MGI Ref ID J:122802]

Alavi MV; Bette S; Schimpf S; Schuettauf F; Schraermeyer U; Wehrl HF; Ruttiger L; Beck SC; Tonagel F; Pichler BJ; Knipper M; Peters T; Laufs J; Wissinger B. 2007. A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy. Brain 130(Pt 4):1029-42. [PubMed: 17314202]  [MGI Ref ID J:154966]

Allen AE; Brown TM; Lucas RJ. 2011. A distinct contribution of short-wavelength-sensitive cones to light-evoked activity in the mouse pretectal olivary nucleus. J Neurosci 31(46):16833-43. [PubMed: 22090509]  [MGI Ref ID J:177906]

Allen AE; Cameron MA; Brown TM; Vugler AA; Lucas RJ. 2010. Visual responses in mice lacking critical components of all known retinal phototransduction cascades. PLoS One 5(11):e15063. [PubMed: 21124780]  [MGI Ref ID J:167121]

Alvarez-Lopez C; Cernuda-Cernuda R; Alcorta E; Alvarez-Viejo M; Manuel Garcia-Fernandez J. 2004. Altered endogenous activation of CREB in the suprachiasmatic nucleus of mice with retinal degeneration. Brain Res 1024(1-2):137-45. [PubMed: 15451375]  [MGI Ref ID J:92980]

Alvarez-Lopez C; Cernuda-Cernuda R; Garcia-Fernandez JM. 2006. The mPer1 clock gene expression in the rd mouse suprachiasmatic nucleus is affected by the retinal degeneration. Brain Res 1087(1):134-41. [PubMed: 16626665]  [MGI Ref ID J:109668]

Alvarez-Lopez C; Cernuda-Cernuda R; Paniagua MA; Alvarez-Viejo M; Fernandez-Lopez A; Garcia-Fernandez JM. 2004. The transcription factor CREB is phosphorylated in neurons of the piriform cortex of blind mice in response to illumination of the retina. Neurosci Lett 357(3):223-6. [PubMed: 15003290]  [MGI Ref ID J:121036]

Ardayfio P; Moon J; Leung KK; Youn-Hwang D; Kim KS. 2008. Impaired learning and memory in Pitx3 deficient aphakia mice: A genetic model for striatum-dependent cognitive symptoms in Parkinson's disease. Neurobiol Dis :. [PubMed: 18573342]  [MGI Ref ID J:136304]

Ash J; McLeod DS; Lutty GA. 2005. Transgenic expression of leukemia inhibitory factor (LIF) blocks normal vascular development but not pathological neovascularization in the eye. Mol Vis 11:298-308. [PubMed: 15889014]  [MGI Ref ID J:98579]

Audo I; Bujakowska K; Orhan E; Poloschek CM; Defoort-Dhellemmes S; Drumare I; Kohl S; Luu TD; Lecompte O; Zrenner E; Lancelot ME; Antonio A; Germain A; Michiels C; Audier C; Letexier M; Saraiva JP; Leroy BP; Munier FL; Mohand-Said S; Lorenz B; Friedburg C; Preising M; Kellner U; Renner AB; Moskova-Doumanova V; Berger W; Wissinger B; Hamel CP; Schorderet DF; De Baere E; Sharon D; Banin E; Jacobson SG; Bonneau D; Zanlonghi X; Le Meur G; Casteels I; Koenekoop R; Long VW; Meire F; Prescott K; de Ravel T; Simm. 2012. Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet 90(2):321-30. [PubMed: 22325361]  [MGI Ref ID J:196741]

Azadi S; Paquet-Durand F; Medstrand P; van Veen T; Ekstrom PA. 2006. Up-regulation and increased phosphorylation of protein kinase C (PKC) delta, mu and theta in the degenerating rd1 mouse retina. Mol Cell Neurosci 31(4):759-73. [PubMed: 16503160]  [MGI Ref ID J:108601]

BRUCKNER R. 1951. [Slit-lamp microscopy and ophthalmoscopy in rat and mouse.] Doc Ophthalmol 5-6:452-554. [PubMed: 14896883]  [MGI Ref ID J:25576]

Ball SL; Powers PA; Shin HS; Morgans CW; Peachey NS; Gregg RG. 2002. Role of the beta(2) subunit of voltage-dependent calcium channels in the retinal outer plexiform layer. Invest Ophthalmol Vis Sci 43(5):1595-603. [PubMed: 11980879]  [MGI Ref ID J:80080]

Barabas P; Liu A; Xing W; Chen CK; Tong Z; Watt CB; Jones BW; Bernstein PS; Krizaj D. 2013. Role of ELOVL4 and very long-chain polyunsaturated fatty acids in mouse models of Stargardt type 3 retinal degeneration. Proc Natl Acad Sci U S A 110(13):5181-6. [PubMed: 23479632]  [MGI Ref ID J:194246]

Barber AC; Hippert C; Duran Y; West EL; Bainbridge JW; Warre-Cornish K; Luhmann UF; Lakowski J; Sowden JC; Ali RR; Pearson RA. 2013. Repair of the degenerate retina by photoreceptor transplantation. Proc Natl Acad Sci U S A 110(1):354-9. [PubMed: 23248312]  [MGI Ref ID J:192521]

Bi A; Cui J; Ma YP; Olshevskaya E; Pu M; Dizhoor AM; Pan ZH. 2006. Ectopic expression of a microbial-type rhodopsin restores visual responses in mice with photoreceptor degeneration. Neuron 50(1):23-33. [PubMed: 16600853]  [MGI Ref ID J:122947]

Blanks JC; Bok D. 1977. An autoradiographic analysis of postnatal cell proliferation in the normal and degenerative mouse retina. J Comp Neurol 174(2):317-27. [PubMed: 864040]  [MGI Ref ID J:5812]

Borowska J; Trenholm S; Awatramani GB. 2011. An intrinsic neural oscillator in the degenerating mouse retina. J Neurosci 31(13):5000-12. [PubMed: 21451038]  [MGI Ref ID J:171202]

Bowes C; Danciger M; Kozak CA; Farber DB. 1989. Isolation of a candidate cDNA for the gene causing retinal degeneration in the rd mouse [published erratum appears in Proc Natl Acad Sci U S A 1990 Feb;87(4):1625] Proc Natl Acad Sci U S A 86(24):9722-6. [PubMed: 2481314]  [MGI Ref ID J:10184]

Bowes C; Li T; Danciger M; Baxter LC; Applebury ML; Farber DB. 1990. Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase [see comments] Nature 347(6294):677-80. [PubMed: 1977087]  [MGI Ref ID J:10777]

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Van Gelder RN; Wee R; Lee JA; Tu DC. 2003. Reduced pupillary light responses in mice lacking cryptochromes. Science 299(5604):222. [PubMed: 12522242]  [MGI Ref ID J:81500]

Vazquez-Chona FR; Clark AM; Levine EM. 2009. Rlbp1 promoter drives robust Muller glial GFP expression in transgenic mice. Invest Ophthalmol Vis Sci 50(8):3996-4003. [PubMed: 19324864]  [MGI Ref ID J:154561]

Viczian A; Sanyal S; Toffenetti J; Chader GJ; Farber DB. 1992. Photoreceptor-specific mRNAs in mice carrying different allelic combinations at the rd and rds loci. Exp Eye Res 54(6):853-60. [PubMed: 1381682]  [MGI Ref ID J:2579]

Vlachantoni D; Bramall AN; Murphy MP; Taylor RW; Shu X; Tulloch B; Van Veen T; Turnbull DM; McInnes RR; Wright AF. 2011. Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degeneration. Hum Mol Genet 20(2):322-35. [PubMed: 21051333]  [MGI Ref ID J:166898]

Wahlin KJ; Adler R; Zack DJ; Campochiaro PA. 2001. Neurotrophic signaling in normal and degenerating rodent retinas. Exp Eye Res 73(5):693-701. [PubMed: 11747369]  [MGI Ref ID J:73377]

Wang Y; Wang ZY; Zhou MN; Cai J; Sun LY; Liu XY; Daugherty BL; Pestka S. 1997. Sequencing and bacterial expression of a novel murine alpha interferon gene. Sci China C Life Sci 40(3):277-283.  [MGI Ref ID J:41297]

Warthen DM; Wiltgen BJ; Provencio I. 2011. Light enhances learned fear. Proc Natl Acad Sci U S A 108(33):13788-93. [PubMed: 21808002]  [MGI Ref ID J:175610]

Welge-Lussen U; Wilsch C; Neuhardt T; Wayne Streilein J; Lutjen-Drecoll E. 1999. Loss of anterior chamber-associated immune deviation (ACAID) in aged retinal degeneration (rd) mice. Invest Ophthalmol Vis Sci 40(13):3209-14. [PubMed: 10586944]  [MGI Ref ID J:58745]

Won J; Shi LY; Hicks W; Wang J; Hurd R; Naggert JK; Chang B; Nishina PM. 2011. Mouse model resources for vision research. J Ophthalmol 2011:391384. [PubMed: 21052544]  [MGI Ref ID J:166679]

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Zencak D; Crippa SV; Tekaya M; Tanger E; Schorderet DE; Munier FL; van Lohuizen M; Arsenijevic Y. 2006. BMI1 loss delays photoreceptor degeneration in Rd1 mice. Bmi1 loss and neuroprotection in Rd1 mice. Adv Exp Med Biol 572:209-15. [PubMed: 17249577]  [MGI Ref ID J:154016]

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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 & HusbandryFor customers interested in only Sd or only Mcoln3Va, we can also offer the following breeder pairs: Re Sd +/Re + + x Re + + /Re + + or vice versa; Re + Mcoln3Va/Re + + x Re + + /Re + + or vice versa. Homozygous Sd/Sd die shortly after birth, homozygous Va/Va have reduced viability and fertility. This strain does not breed well.

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* $2525.00
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 10 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* $3283.00
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 10 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.

General Supply Notes

  • View the complete collection of spontaneous mutants in the Mouse Mutant Resource.

Control Information

  Control
   None Available
   Wild-type from the colony
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

Important Note

This strain is homozygous for Re and segregating for Sd and Mcoln3Va.

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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