Description

Strain Information

Type Spontaneous Mutation; Additional information on Genetically Engineered Mutant Mice. Type Inbred Strain; Additional information on Inbred Strains. Mating System TJL Breeding Scheme: for Re: homozygote x homozygote; for Sd: heterozygote x wildtype; for Mcoln3Va: heterozygote x wildtype or wildtype x heterozygote TJL Breeding Summary: RSV/Le Re/Re Mcoln3Va/+ Sd/+ x RSV/Le Re/Re +/+ +/+ OR RSV/Le Re/Re +/+ Sd/+ x Re/Re Mcoln3Va/+ +/+ In other words this strain is maintained homozygous for Re and is bred heterozygous x wild type for the unlinked mutations Mcoln3Va and Sd. Species laboratory mouse Generation F136 (20-NOV-08)

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

Re and Mcoln3^Va: grey with white spotting, curly whiskers, and wavy coat
Related Genotype: A/A Re/Re +/+ Mcoln3^Va/+

Re, Sd and Mcoln3^Va: grey with white spotting, curly whiskers, wavy coat, and short tail
Related Genotype: A/A Re/Re Sd/+ Mcoln3^Va/+

Re, Sd and Mcoln3^Va: white with agouti patches at ears and tail base, curly whiskers, wavy coat, and short tail
Related Genotype: A/A Re/Re Sd/+ Mclon3^Va/Mclon3^Va

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 Mcoln3^Va.

Description
Mice heterozygous for the varitint-waddler spontaneous mutation (Mcoln3^Va) 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 (Mcoln3^Va-J/Mcoln3^Va) are similar to Mcoln3^Va-J/Mcoln3^Va-J mice but are smaller with more white spotting and abnormal behavior. They are deaf and circle vigorously. Viability and fertility of Mcoln3^Va-J/Mcoln3^Va 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 (Mcoln3^Va) 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 Mcoln3^Va 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   Krt25^Re allele

000568	B6.Cg-Pmp22Tr-J Krt25Re/+ +/J
000126	B6By.Cg-Sd Mcoln3Va-J Krt25Re/J
000622	SHR/GnEiJ

View Strains carrying   Krt25^Re     (3 strains)

Strains carrying   Mcoln3^Va allele

000071

C57BL/6J-Mcoln3Va/J

View Strains carrying   Mcoln3^Va     (1 strain)

Strains carrying   Sd allele

000126

B6By.Cg-Sd Mcoln3Va-J Krt25Re/J

View Strains carrying   Sd     (1 strain)

Strains carrying other alleles of Mcoln3

000126	B6By.Cg-Sd Mcoln3Va-J Krt25Re/J
000296	B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J

View Strains carrying other alleles of Mcoln3     (2 strains)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

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

Krt25^Re/Krt25^Re

        B6.Cg-Pmp22^Tr-J Krt25^Re/+ +/J

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

Mcoln3^Va/Mcoln3⁺

        involves: C57BL * C57BR

• hearing/vestibular/ear phenotype
• circling (MGI Ref ID J:13133)
  • mixed circling habits are present as early as 14 days after birth
• deafness (MGI Ref ID J:13133)
• head tossing (MGI Ref ID J:13133)
  • choreic head movements
• behavior/neurological phenotype
• abnormal locomotor coordination (MGI Ref ID J:13133)
  • waddling "duck like" walk
• abnormal maternal nurturing (MGI Ref ID J:13133)
  • neglect their young and trample pups
• circling (MGI Ref ID J:13133)
  • mixed circling habits are present as early as 14 days after birth
• head tossing (MGI Ref ID J:13133)
  • choreic head movements
• hyperactivity (MGI Ref ID J:13133)
  • usually in motion when not asleep, nodding and tossing their heads
• jumpy (MGI Ref ID J:13133)
  • in reaction to sudden jarring
• tonic seizures (MGI Ref ID J:13133)
  • a convulsive stiffening of the body in reaction ot sudden jarring
• nervous system phenotype
• tonic seizures (MGI Ref ID J:13133)
  • a convulsive stiffening of the body in reaction ot sudden jarring
• pigmentation phenotype
• variegated coat color (MGI Ref ID J:13133)
  • with patches of normal-colored, diluted, and white fur
• skin/coat/nails phenotype
• variegated coat color (MGI Ref ID J:13133)
  • with patches of normal-colored, diluted, and white fur
• reproductive system phenotype
• reduced fertility (MGI Ref ID J:13133)
  • some of the heterozygous mice, especially the males are sterile

Mcoln3^Va/Mcoln3⁺

        mixed

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

Mcoln3^Va/Mcoln3^Va

        involves: C57BL * C57BR

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

Mcoln3^Va/Mcoln3^Va

        mixed

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

Sd/Sd

        involves: Danforth's duplication stock

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

Sd/Sd⁺

        B6By.Cg-Sd Mcoln3^Va-J Krt25^Re/J

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

Sd/Sd⁺

        involves: NMRI

• skeleton phenotype
• abnormal vertebrae morphology (MGI Ref ID J:49126)
  • mice show obvious defects up to the lower lumbar levels at E16.5
• abnormal caudal vertebrae morphology (MGI Ref ID J:49126)
  • vertebrae at caudal level are malformed
• absent caudal vertebrae (MGI Ref ID J:49126)
  • most caudal vertebrae are completely deleted
• abnormal cervical vertebrae morphology (MGI Ref ID J:49126)
  • in cervical region, vertebrae lack ossification center in centrum of the axis and have a severely reduced or missing dens axis (cranial protrusion of second cervical vertebra) at E16.5
• abnormal lumbar vertebrae morphology (MGI Ref ID J:49126)
• abnormal sacral vertebrae morphology (MGI Ref ID J:49126)
  • vertebrae are severely malformed in animals at E16.5
• absent sacral vertebrae (MGI Ref ID J:49126)
  • sacral level vertebrae may be partially or totally deleted ventrally
• abnormal vertebral body morphology (MGI Ref ID J:49126)
• limbs/digits/tail phenotype
• abnormal caudal vertebrae morphology (MGI Ref ID J:49126)
  • vertebrae at caudal level are malformed
• absent caudal vertebrae (MGI Ref ID J:49126)
  • most caudal vertebrae are completely deleted
• short tail (MGI Ref ID J:49126)
  • 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
  • 26%, 48%, and 26% of heterozygotes with mutations in cis fall into groups1, 2, and 3 respectively

Sd/Sd⁺

        involves: Danforth's duplication stock

• lethality-postnatal
• postnatal lethality (MGI Ref ID J:13055)
  • nearly 70% of animals die prior to weaning age
• limbs/digits/tail phenotype
• absent tail (MGI Ref ID J:13055)
  • some mice lack a tail completely or have a non-bondy filament of skin and connective tissue
  • tail length decreases with increased numbers of backcrosses to Bagg albino; absent tail is more frequent with increased backcrosses
• short tail (MGI Ref ID J:13055)
  • 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
  • tail length decreases with increased numbers of backcrosses to Bagg albino; absent tail is more frequent with increased backcrosses
• skeleton phenotype
• abnormal sacral vertebrae morphology (MGI Ref ID J:13055)
  • sacral region often appears shortened, due to vertebral malformations
• abnormal spine curvature (MGI Ref ID J:13055)
  • mice occasionally have crooked spines
• lordosis (MGI Ref ID J:13055)
  • occasionally found
• scoliosis (MGI Ref ID J:13055)
  • occasionally found

View Research Applications

Research Applications

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

Krt25^Re related

Dermatology Research
Skin and Hair Texture Defects

Mcoln3^Va related

Color and White Spotting Defects

Neurobiology Research
Vestibular and Hearing Defects

Sensorineural Research
Vestibular and Hearing Defects

Sd related

Developmental Biology Research
Internal/Organ Defects (urogenital)
Skeletal Defects

Internal/Organ Research
Kidney Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol		Krt25Re
Allele Name		rex
Allele Type		Spontaneous
Common Name(s)		Re;
Strain of Origin		Outbred
Gene Symbol and Name		Krt25, keratin 25
Chromosome		11
Gene Common Name(s)		4631426H08Rik; KRT25A; Ka38; RIKEN cDNA 4631426H08 gene; mIRSa1;
General Note		A mutation in the gasdermin 3 locus (Gsdm3) has been described for the Reden allele. However, no mutations in gasdermin 3 could be found associated with the Re allele. Therefore, the Re marker has not been merged with Gsdm3. (J:93938) The original rex mutation was first described by Crew and Auerbach (J:15328), who obtained it from a commercial breeder. Both homozygotes and heterozygotes are fully viable and fertile. Homozygotes have a slightly more extreme expression than heterozygotes when young (J:224). Both have curly whiskers and wavy coats. The waviness of the coat disappears in adults, but the vibrissae and guard hairs remain curly. In both homozygotes and heterozygotes, all hair types are present, but the shaft diameter is irregular with variation in width of the cortex, and with some bends and twists. The hair defects appear to be due to a defect in the internal root sheath which is irregular in shape and unable to support the hair shaft and control its diameter (J:15247).
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; FLJ11006; FLJ36629; MGC71509; RIKEN cDNA 6720490O21 gene; TRP-ML3; TRPML3; Va; varitint-waddler;
General Note		This mutation was found among descendants of a cross of C57BL x C57BR strains. Viability of heterozygotes is nearly normal, but fertility is reduced. Mortality is very high in homozygotes, and very few of the survivors are fertile. Heterozygotes are deaf and show circling behavior, head-tossing, and hyperactivity. They 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 behavioralabnormalities than heterozygotes, and their coats are white, except for small patches of unaltered color near the ears and base of the tail (J:13133). 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 (J:13046). In heterozygotes, in addition to the characteristic shaker-waltzer behavior, a number of behavioral defects involving reflexes and locomotor patterns and said to be characteristic of defects of the corpus striatum have been described (J:5297). In the same study a close correlation was found between direction of lateralityof circling and asymmetry of distribution of the wild-type patches of fur.
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		Sd
Allele Name		Danforth's short tail
Allele Type		Spontaneous
Strain of Origin		Danforth's duplication stock
General Note		Found as a spontaneous mutation by Danforth (J:13055). Many heterozygotes and all homozygotes die shortly after birth from urogenital abnormalities. The surviving heterozygotes may have good viability and fertility. Heterozygotes have short tails with a reduced number of caudal vertebrae and some kinking. Tails may be absent and the third and fourth sacral vertebrae missing. The bodies of all the vertebrae are reduced (J:30757). One or both kidneys may be reduced in size or absent. In the absence of akidney the ureter may be short or absent. Homozygotes have similar but much more severe abnormalities. In addition, the anus is imperforate, and the rectum and sometimes the urethra and bladder are absent (J:12956). The developmental effects can be traced to a structurally abnormal notochord, more severe toward the caudal end, leading to abnormal vertebrae and to reduction of the cloaca and tail gut (J:12994). The notochord shows discontinuities at 9 days of gestation, and by 11 days mesenchymal organization around the notochord is abnormal (J:6313). Organ culture experiments attempting to determine whether the lack of kidneys in Sd/Sd is due to defective kidney mesenchyme or to defective ureters indicated that both are quantitatively defective (J:12723). A locus that modifies tail length in Sd /+ mice was discovered by Wallace and found to be located close to Mlph on Chr 1 (J:13366).

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

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]

Krt25^Re 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. . 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]

Mcoln3^Va 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]

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]

Sd related

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]

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]

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]

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]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           FGB29

Colony Maintenance

Breeding & Husbandry

For 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.

Mating System

TJL Breeding Scheme: for Re: homozygote x homozygote; for Sd: heterozygote x wildtype; for Mcoln3Va: heterozygote x wildtype or wildtype x heterozygote TJL Breeding Summary: RSV/Le Re/Re Mcoln3Va/+ Sd/+ x RSV/Le Re/Re +/+ +/+ OR RSV/Le Re/Re +/+ Sd/+ x Re/Re Mcoln3Va/+ +/+ In other words this strain is maintained homozygous for Re and is bred heterozygous x wild type for the unlinked mutations Mcoln3Va and Sd.

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply	Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement.
Supply Notes	Usually shipped between four and eight weeks of age. This strain is included in the Mouse Mutant Resource collection. Genomic DNA is available for this strain from the Mouse DNA Resource.
Important Note	This strain is homozygous for Re and segregating for Sd and Mcoln3Va.

Control Information

	Control
	None Available
	Wild-type from the colony
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

General Terms and Conditions

See Terms of Use

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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Ordering and Purchasing Information

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Contact Information
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Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
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Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries

Contracts Administration

phone:	207-288-6470
fax:	207-288-6655

JAX^® Mice & Services Conditions of Use

“Each recipient institution, including its employees and other researchers under its control (RECIPIENT), of mice or services using mice from The Jackson Laboratory (TJL) agrees that such mice, descendants of those mice derived by inbreeding or crossbreeding, including unmodified derivatives of those mice or their descendants (“MICE”) shall not be: (i) used for any purpose other than the internal research of the RECIPIENT, (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 with respect to MICE. Acceptance of MICE from TJL shall be deemed agreement by RECIPIENT to these conditions, and departure from these conditions requires The Jackson Laboratory’s prior written authorization.”

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, The Jackson Laboratory will, at its option, provide credit or replacement for the MICE or product received or the services provided.

No Liability

In no event shall The Jackson Laboratory, 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 The Jackson Laboratory, its agents or employees. In purchasing or receiving MICE, products or services from The Jackson Laboratory, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges The Jackson Laboratory from all such causes of action or damages, and further agrees to defend and indemnify The Jackson Laboratory from any costs or damages arising out of any third party claims.

MICE and biological materials 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 The Jackson Laboratory’s MICE, products and services. In addition, special terms and conditions of sale of certain MICE, products and services may be set forth separately in The Jackson Laboratory 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 The Jackson Laboratory, 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 The Jackson Laboratory, 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 services by The Jackson Laboratory.