Strain Name:

B6By.Cg-Etn2Sd Mcoln3Va-J Krt25Re/J

Stock Number:

000126

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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

Former Names B6By.Cg-Sd Mcoln3Va-J Re/J    (Changed: 17-JUN-08 )
B6By.Cg-Re Sd VaJ    (Changed: 15-DEC-04 )
B6By.Cg-Sd VaJ Re    (Changed: 15-DEC-04 )
Type Congenic; Mutant Strain;
Additional information on Genetically Engineered and Mutant Mice.
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Additional information on Congenic nomenclature.
Specieslaboratory mouse
Background Strain C57BL/6By
Donor Strain Krt25Re , commercial breeder; Sd , Danforth's stock; Mcoln3Va-J , Linkage cross
GenerationN12p
Generation Definitions

Description
Mice heterozygous for the varitint-waddler Jackson spontaneous mutation (Mcoln3Va-J) are more pigmented than the original varitint waddler mice (Mcoln3 Va) and behave normally although they are deaf. They have slightly diluted coat color, a large irregular belly spot, and white feet and tail tip. Homozygous mutant mice have extensive white spotting interspersed with patches of diluted color. They are deaf but behave normally and 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 carrying two other mutations, rex (Krt25Re) and Danforth's short tail (Sd).

Related Strains

Strains carrying   Etn2Sd allele
000268   RSV/LeJ
View Strains carrying   Etn2Sd     (1 strain)

Strains carrying   Krt25Re allele
000568   B6.Cg-Pmp22Tr-J Krt25Re/+ +/J
000268   RSV/LeJ
View Strains carrying   Krt25Re     (2 strains)

Strains carrying   Mcoln3Va-J allele
000296   B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
View Strains carrying   Mcoln3Va-J     (1 strain)

Strains carrying other alleles of Mcoln3
000071   B6.Cg-Mcoln3Va/J
000268   RSV/LeJ
View Strains carrying other alleles of Mcoln3     (2 strains)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

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)

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

Mcoln3Va-J/Mcoln3+

        Background Not Specified
  • hearing/vestibular/ear phenotype
  • deafness   (MGI Ref ID J:5286)
  • behavior/neurological phenotype
  • *normal* behavior/neurological phenotype
    • behave normally unlike Mcoln3Va   (MGI Ref ID J:64107)
  • pigmentation phenotype
  • abnormal foot pigmentation
    • white feet   (MGI Ref ID J:5286)
  • belly spot
    • mice exhibit a large, irregular belly spot   (MGI Ref ID J:5286)
  • diluted coat color   (MGI Ref ID J:5286)
  • non-pigmented tail tip   (MGI Ref ID J:5286)
  • variegated coat color
    • a slightly dilute coat color, large irregular belly spots and white feet and tail tips   (MGI Ref ID J:64107)
    • not as varicolored as unlike Mcoln3Va   (MGI Ref ID J:64107)
  • limbs/digits/tail phenotype
  • non-pigmented tail tip   (MGI Ref ID J:5286)
  • integument phenotype
  • abnormal foot pigmentation
    • white feet   (MGI Ref ID J:5286)
  • belly spot
    • mice exhibit a large, irregular belly spot   (MGI Ref ID J:5286)
  • diluted coat color   (MGI Ref ID J:5286)
  • non-pigmented tail tip   (MGI Ref ID J:5286)
  • variegated coat color
    • a slightly dilute coat color, large irregular belly spots and white feet and tail tips   (MGI Ref ID J:64107)
    • not as varicolored as unlike Mcoln3Va   (MGI Ref ID J:64107)

Mcoln3Va-J/Mcoln3+

        B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
  • pigmentation phenotype
  • belly spot
    • heterozygotes express a small white ventral spot   (MGI Ref ID J:78812)
  • diluted coat color
    • heterozygotes express a slightly diluted coat color which is less diluted than that of the original veritant waddler heterozygotes   (MGI Ref ID J:78812)
  • head spot
    • some heterozygotes have a white forehead patch   (MGI Ref ID J:78812)
  • hearing/vestibular/ear phenotype
  • increased or absent threshold for auditory brainstem response
    • at 2 weeks of age heterozygotes respond to 8- and 16-kHz stimuli only at sound pressure levels of 88 dB and 94 dB respectively, no response was found to click or 32 kHz stimuli, and at 3 weeks of age thresholds increased to >100 dB, which, although it is an early and rapidly progressing hearing loss, is a less severe phenotype than in mice heterozygous for the original veritant waddler mutation   (MGI Ref ID J:78812)
  • integument phenotype
  • belly spot
    • heterozygotes express a small white ventral spot   (MGI Ref ID J:78812)
  • diluted coat color
    • heterozygotes express a slightly diluted coat color which is less diluted than that of the original veritant waddler heterozygotes   (MGI Ref ID J:78812)
  • head spot
    • some heterozygotes have a white forehead patch   (MGI Ref ID J:78812)

Mcoln3Va-J/Mcoln3Va-J

        Background Not Specified
  • hearing/vestibular/ear phenotype
  • deafness   (MGI Ref ID J:5286)
  • behavior/neurological phenotype
  • *normal* behavior/neurological phenotype
    • both sexes are fertile and do not have the abnormal behavior of Mcoln3Va   (MGI Ref ID J:64107)
    • able to swim   (MGI Ref ID J:64107)
    • mice swim and behave normally   (MGI Ref ID J:5286)
  • pigmentation phenotype
  • diluted coat color   (MGI Ref ID J:5286)
  • variegated coat color
    • mostly white with patches of dilute color   (MGI Ref ID J:64107)
  • white spotting   (MGI Ref ID J:5286)
  • integument phenotype
  • diluted coat color   (MGI Ref ID J:5286)
  • variegated coat color
    • mostly white with patches of dilute color   (MGI Ref ID J:64107)
  • white spotting   (MGI Ref ID J:5286)

Mcoln3Va-J/Mcoln3Va-J

        B6.Cg-Mcoln3Va-J
  • mortality/aging
  • partial prenatal lethality
    • at backcross generation N6 to C57BL/6J intercrossing heterozygotes yields only 8% homozygous offspring   (MGI Ref ID J:78812)

Mcoln3Va-J/Mcoln3Va-J

        B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
  • pigmentation phenotype
  • mottled coat
    • homozygotes are almost entirely variegated both ventrally and dorsally   (MGI Ref ID J:78812)
  • integument phenotype
  • mottled coat
    • homozygotes are almost entirely variegated both ventrally and dorsally   (MGI Ref ID J:78812)

Mcoln3Va-J/?

        involves: C3HeB/FeJLe * C57BL/6J
  • hearing/vestibular/ear phenotype
  • increased or absent threshold for auditory brainstem response
    • at 12 weeks of age F2 progeny of a cross to C3HeB/FeJLe fail to respond to a 16 kHz stimulus at >100 dB, indicating that there are no background modifiers ameliorating this phenotype   (MGI Ref ID J:78812)

Mcoln3Va-J/?

        involves: A/J * C57BL/6J
  • hearing/vestibular/ear phenotype
  • increased or absent threshold for auditory brainstem response
    • at 12 weeks of age F2 progeny of a cross to A/J fail to respond to a 16 kHz stimulus at >100 dB, indicating that there are no background modifiers ameliorating this phenotype   (MGI Ref ID J:78812)

Mcoln3Va-J/?

        involves: C57BL/6J * DBA/2J
  • hearing/vestibular/ear phenotype
  • increased or absent threshold for auditory brainstem response
    • at 12 weeks of age F2 progeny of a cross to DBA/2J fail to respond to a 16 kHz stimulus at >100 dB, indicating that there are no background modifiers ameliorating this phenotype   (MGI Ref ID J:78812)

Mcoln3Va-J/?

        involves: BALB/cByJ * C57BL/6J
  • hearing/vestibular/ear phenotype
  • increased or absent threshold for auditory brainstem response
    • at 12 weeks of age F2 progeny of a cross to BALB/cByJ fail to respond to a 16 kHz stimulus at >100 dB, indicating that there are no background modifiers ameliorating this phenotype   (MGI Ref ID J:78812)

Mcoln3Va-J/?

        involves: C57BL/6J * CZECHII/EiJ
  • hearing/vestibular/ear phenotype
  • increased or absent threshold for auditory brainstem response
    • at 12 weeks of age F2 progeny of a cross to CZECHII/EiJ fail to respond to a 16 kHz stimulus at >100 dB, indicating that there are no background modifiers ameliorating this phenotype   (MGI Ref ID J:78812)

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)
View Research Applications

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-J related
Color and White Spotting Defects

Neurobiology Research
Hearing Defects
Vestibular Defects

Sensorineural Research
Hearing Defects
Vestibular Defects

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-J
Allele Name varitint waddler Jackson
Allele Type Spontaneous
Common Name(s) VaJ;
Strain of OriginSTOCK Mcoln3
Gene Symbol and Name Mcoln3, mucolipin 3
Chromosome 3
Gene Common Name(s) 6720490O21Rik; RIKEN cDNA 6720490O21 gene; TRP-ML3; TRPML3; Va; varitint-waddler;
General Note This mutation was found in a linkage cross involving Mcoln3Va, and probably arose by mutation from Mcoln3Va. (J:5286)
Molecular Note This allele has a T-to-C transition at nucleotide 1085 within exon 8. This results in a change from isoleucine to threonine at amino acid 362 in the second extracellular loop. The Mcoln3Va-J allele, which arose on a strain segregating for the more severe Mcoln3Va allele, also has the G-to-C transversion at nucleotide 1255 specific to the Mcoln3Va allele indicating that the Mcoln3Va-J allele contains an additional point mutation to the Mcoln3Va allele. The less severe phenotype of the Mcoln3Va-J allele suggests that the T-to-C transition at nucleotide 1085 might mitigate the effects of the G-to-C mutation at nucleotide 1255 although the impact of genetic background must be considered. The encoded protein can be detected in the hair cells of heterozygous and homozygous mice. [MGI Ref ID J:80336]

Genotyping

Genotyping Information


Helpful Links

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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-J related

Cable J; Steel KP. 1998. Combined cochleo-saccular and neuroepithelial abnormalities in the Varitint-waddler-J (VaJ) mouse. Hear Res 123(1-2):125-36. [PubMed: 9745961]  [MGI Ref ID J:49944]

Cabraja M; Baurle J. 2007. Vestibular ganglion neurons survive hair cell defects in jerker, shaker, and Varitint-waddler mutants and downregulate calretinin expression. J Comp Neurol 504(4):418-26. [PubMed: 17663432]  [MGI Ref ID J:132913]

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; Cuajungco MP; van Aken AF; Schnee M; Jors S; Kros CJ; Ricci AJ; Heller S. 2007. A helix-breaking mutation in TRPML3 leads to constitutive activity underlying deafness in the varitint-waddler mouse. Proc Natl Acad Sci U S A 104(49):19583-8. [PubMed: 18048323]  [MGI Ref ID J:128490]

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]

Nagata K; Zheng L; Madathany T; Castiglioni AJ; Bartles JR; Garcia-Anoveros J. 2008. The varitint-waddler (Va) deafness mutation in TRPML3 generates constitutive, inward rectifying currents and causes cell degeneration. Proc Natl Acad Sci U S A 105(1):353-8. [PubMed: 18162548]  [MGI Ref ID J:131070]

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]

van Aken AF; Atiba-Davies M; Marcotti W; Goodyear RJ; Bryant JE; Richardson GP; Noben-Trauth K; Kros CJ. 2008. TRPML3 mutations cause impaired mechano-electrical transduction and depolarization by an inward-rectifier cation current in auditory hair cells of varitint-waddler mice. J Physiol 586(Pt 22):5403-18. [PubMed: 18801844]  [MGI Ref ID J:176565]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

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

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


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

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3300.00
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 willfulfill 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* $4290.00
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 willfulfill 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.

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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.


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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.
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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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