JAX
Mouse Strain Datasheet - 000296
B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
Mice heterozygous for the varitint-waddler Jackson spontaneous mutation (Mcoln3Va-J) are more pigmented than the original varitint waddler mice (Mcoln3Va) 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 of 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 the semidominant hypodactyly spontaneous mutation (Hoxa13Hd). Heterozygous hyp...
Read More +Genetic overview
| Genetic Background | Generation |
|---|---|
|
|
Hoxa13Hd
| Allele Type | Gene Symbol | Gene Name |
|---|---|---|
| Spontaneous | Hoxa13 | homeobox A13 |
Mcoln3Va-J
| Allele Type | Gene Symbol | Gene Name |
|---|---|---|
| Spontaneous | Mcoln3 | mucolipin 3 |
a
| Allele Type | Gene Symbol | Gene Name |
|---|---|---|
| Spontaneous | a | nonagouti |
Research Applications
- Developmental Biology Research
- Dermatology Research
- Neurobiology Research
- Sensorineural Research
Detailed Description
Mice heterozygous for the varitint-waddler Jackson spontaneous mutation (Mcoln3Va-J) are more pigmented than the original varitint waddler mice (Mcoln3Va) 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 of 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 the semidominant hypodactyly spontaneous mutation (Hoxa13Hd). Heterozygous hypodactyly mutant mice are viable and fertile. Heterozygotes are missing the terminal phalanx of the first digit of the hindfoot and show variable penetrance for shortening or missing first phalanx. The forefeet are normal. Homozygous mutant mice have a single digit on each foot and greatly reduced carpals, metacarpals, tarsals, and metatarsals. The surviving digit is probably the fifth. Most homozygotes die before birth, but a few have survived to maturity but are sterile.
Development
The mutation hypodactyly (Hoxa13Hd) arose spontaneously in strain MYA/Hu of Dr. K. P. Hummel at The Jackson Laboratory in approximately 1965. It was backcrossed onto a hybrid of C3HeB/Hu x DBAfB/Hu for 5 generations before being backcrossed onto C57BL/6J for 7 generations. The mutation Mcoln3Va-J arose spontaneously in a chromosome 3 linkage testing stock and was backcrossed onto C57BL/6J for 10 generations before crossing to C57BL/6J-Hoxa13Hd/+ at N7. This Hoxa13Hd Mcoln3Va-J stock was sibling bred for 2 generations and backcrossed once to C57BL/6J and then crossed to the B6C3Fe-a/a F1 hybrid and maintained by continued crosses to this hybrid. In 1987 B6C3F1-a/a F1 females were bred with Hoxa13Hd Mcoln3Va-J/+ + males at N5F2 to generate embryos for cryopreservation.
Control Suggestions
Hoxa13Hd
Allele Symbol: Hoxa13Hd
| Allele Name | hypodactyly |
|---|---|
| Allele Type | Spontaneous |
| Allele Synonym(s) | Hd |
| Gene Symbol and Name | Hoxa13, homeobox A13 |
| Gene Synonym(s) | HOX1; HOX1J; Hd; Hox-1.10; Hox-1.10; RGD1562483; homeo box-1 cluster, gene 10; hypodactyly |
| Strain of Origin | MYA/Hu |
| Chromosome | 6 |
| General Note | A double mutant of the hydrocephalic-polydactyly mutation, hophpy, and the hypodactyly mutation, Hoxa13Hd, produced offspring of normal hallux phenotype. The first mutant tends to multiply, the second to eliminate halluces, and the two cancel each other (J:23839). |
| Molecular Note | A 50-base pair deletion in the first exon of the Hd allele that probably arose from unequal recombination or misalignment between triplet repeats. |
Mcoln3Va-J
Allele Symbol: Mcoln3Va-J
| Allele Name | varitint waddler Jackson |
|---|---|
| Allele Type | Spontaneous |
| Allele Synonym(s) | VaJ |
| Gene Symbol and Name | Mcoln3, mucolipin 3 |
| Gene Synonym(s) | 6720490O21Rik; 6720490O21Rik; RIKEN cDNA 6720490O21 gene; TRP-ML3; TRPML3; Va; Va; varitint-waddler; varitint-waddler |
| Strain of Origin | STOCK Mcoln3 |
| Chromosome | 3 |
| 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. |
a
Allele Symbol: a
| Allele Name | nonagouti |
|---|---|
| Allele Type | Spontaneous |
| Allele Synonym(s) | |
| Gene Symbol and Name | a, nonagouti |
| Gene Synonym(s) | AGSW; AGTI; AGTIL; ASP; As; As; SHEP9; agouti; agouti signal protein; agouti suppressor |
| Strain of Origin | old mutant of the mouse fancy |
| Chromosome | 2 |
| Molecular Note | Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats. The host integration site is the same as for at-2Gso and Aw-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type. |
Disease Terms
Research Areas By Genotype
This mouse can be used to support research in many areas including:
Genotype: Hoxa13Hd related
- Developmental Biology Research
- Skeletal Defects
- Oligodactyly
- Skeletal Defects
Genotype: Mcoln3Va-J related
- Dermatology Research
- Color and White Spotting Defects
- Neurobiology Research
- Hearing Defects
- Vestibular Defects
- Sensorineural Research
- Hearing Defects
- Vestibular Defects
Mammalian Phenotype Terms by Genotype
Genotype: 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 mutationan 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)
Genotype: 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)
Genotype: Hoxa13Hd/Hoxa13+
B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
endocrine/exocrine gland phenotype
- abnormal ampullary gland morphology
- decrease in the number of duct tips in the ampullary gland (MGI Ref ID J:54823)
- abnormal branching involved in seminal vesicle morphogenesis
- little secondary and tertiary branching is observed (MGI Ref ID J:54823)
- abnormal prostate gland anterior lobe morphology
- 29% have one lobe of the coagulating gland duct that has a single main duct (MGI Ref ID J:54823)
- abnormal seminal vesicle morphology
- seminal vesicles have an altered curvature and spiked clefting and lack the secondary and tertiary branches (MGI Ref ID J:54823)
- decreased prostate gland duct number
- decrease in the number of duct tips in the dorsal and lateral divisions of the dorsolateral prostate and the ventral prostate (MGI Ref ID J:54823)
- small prostate gland
- 57% have a smaller dorsal prostate, 43% have a smaller lateral prostate, and 43% have a smaller ventral prostate (MGI Ref ID J:54823)
- small prostate gland ventral lobe
- 43% have a smaller ventral prostate (MGI Ref ID J:54823)
- small seminal vesicle
- 86% have seminal vesicles that are two thirds the size of wild-type (MGI Ref ID J:54823)
reproductive system phenotype
- abnormal ampullary gland morphology
- decrease in the number of duct tips in the ampullary gland (MGI Ref ID J:54823)
- abnormal branching involved in seminal vesicle morphogenesis
- little secondary and tertiary branching is observed (MGI Ref ID J:54823)
- abnormal prostate gland anterior lobe morphology
- 29% have one lobe of the coagulating gland duct that has a single main duct (MGI Ref ID J:54823)
- abnormal seminal vesicle morphology
- seminal vesicles have an altered curvature and spiked clefting and lack the secondary and tertiary branches (MGI Ref ID J:54823)
- abnormal uterine cervix morphology
- exhibit an anterior transformation of cervical tissue to a uterine stromal phenotype (MGI Ref ID J:58731)
- decreased prostate gland duct number
- decrease in the number of duct tips in the dorsal and lateral divisions of the dorsolateral prostate and the ventral prostate (MGI Ref ID J:54823)
- small prostate gland
- 57% have a smaller dorsal prostate, 43% have a smaller lateral prostate, and 43% have a smaller ventral prostate (MGI Ref ID J:54823)
- small prostate gland ventral lobe
- 43% have a smaller ventral prostate (MGI Ref ID J:54823)
- small seminal vesicle
- 86% have seminal vesicles that are two thirds the size of wild-type (MGI Ref ID J:54823)
Genotype: Hoxa13Hd/Hoxa13Hd
B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
digestive/alimentary phenotype
- intestinal obstruction
- 2 of 3 males exhibit bowel obstructions (MGI Ref ID J:58731)
- short perineum
- 5 of 6 females exhibit a reduced ano-vaginal distance (MGI Ref ID J:58731)
renal/urinary system phenotype
- abnormal female urethra morphology
- urethra is abnormally located within the serosal layer in females (MGI Ref ID J:58731)
- abnormal penile bone morphology
- the proximal part of the penial bone is mishapen (MGI Ref ID J:58731)
- abnormal renal/urinary system morphology
- one third of females exhibit urinary tract defects (MGI Ref ID J:58731)
- absent urinary bladder
- 1 of 18 females lack a bladder (MGI Ref ID J:58731)
- kidney cysts
- 3 of 18 females exhibit cystic kidneys (MGI Ref ID J:58731)
- renal hypoplasia
- 1 of 18 females exhibt a hypoplastic kidney (MGI Ref ID J:58731)
- small penile bone
- the proximal part of the penial bone is smaller (MGI Ref ID J:58731)
- urinary bladder cysts
- 2 of 3 males exhibit cystic bladders (MGI Ref ID J:58731)
- urinary bladder hypoplasia
- 1 of 3 males exhibit a hypoplastic bladder (MGI Ref ID J:58731)
- vesicovaginal fistula
- 1 of 18 females exhibit an abnormal fistula connecting the bladder and vaginal cavity (MGI Ref ID J:58731)
reproductive system phenotype
- abnormal penile bone morphology
- the proximal part of the penial bone is mishapen (MGI Ref ID J:58731)
- abnormal uterine cervix morphology
- exhibit an anterior transformation of cervical tissue to a uterine stromal phenotype (MGI Ref ID J:58731)
- stromal tissue surrounding the cervical canals is smaller and the cervical canal is greatly reduced in size (MGI Ref ID J:58731)
- the columnar-to-squamosal epithelial transition that characterizes mature cervical-vaginal tissue is positioned within uterine-like stroma rather than cervical tissue (MGI Ref ID J:58731)
- dilated uterine horn
- 5 of 18 females exhibit enlarged, fluid-filled uterine horns (MGI Ref ID J:58731)
- female infertility
- (MGI Ref ID J:58731)
- male infertility
- (MGI Ref ID J:58731)
- short perineum
- 5 of 6 females exhibit a reduced ano-vaginal distance (MGI Ref ID J:58731)
- small penile bone
- the proximal part of the penial bone is smaller (MGI Ref ID J:58731)
- small vagina
- profoundly small vaginal cavity (MGI Ref ID J:58731)
- uterine cervix hypoplasia
- cervix is hypoplastic (MGI Ref ID J:58731)
- vesicovaginal fistula
- 1 of 18 females exhibit an abnormal fistula connecting the bladder and vaginal cavity (MGI Ref ID J:58731)
The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain
Genotype: Mcoln3Va-J/Mcoln3+
Not Specified
hearing/vestibular/ear phenotype
- deafness
- (MGI Ref ID J:5286)
behavior/neurological phenotype
- 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
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)
Genotype: Mcoln3Va-J/Mcoln3Va-J
Not Specified
hearing/vestibular/ear phenotype
- deafness
- (MGI Ref ID J:5286)
behavior/neurological phenotype
- behavior/neurological phenotype
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)
Genotype: Mcoln3Va-J/Mcoln3Va-J
B6.Cg-Mcoln3Va-J
mortality/aging
- prenatal lethality, incomplete penetrance
- Background Sensitivity - at backcross generation N6 to C57BL/6J intercrossing heterozygotes yields only 8% homozygous offspring (MGI Ref ID J:78812)
Genotype: 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)
Genotype: 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)
Genotype: 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)
Genotype: 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)
Genotype: 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)
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: 12403827MGI: 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: 12209292MGI: 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: 4557539MGI: J:5286
Additional - a related
- Baba K; Sakakibara S; Setsu T; Terashima T. 2007. The superficial layers of the superior colliculus are cytoarchitectually and myeloarchitectually disorganized in the reelin-deficient mouse, reeler. Brain Res 1140:205-15. PubMed: 17173877MGI: J:120267
- Batchelor AL; Phillips RJ; Searle AG. 1966. A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res 3(3):218-29. PubMed: 5962396MGI: J:5021
- Bjorbaek C; Elmquist JK; Frantz JD; Shoelson SE; Flier JS. 1998. Identification of SOCS-3 as a potential mediator of central leptin resistance. Mol Cell 1(4):619-25. PubMed: 9660946MGI: J:119803
- Bultman SJ; Klebig ML; Michaud EJ; Sweet HO; Davisson MT; Woychik RP. 1994. Molecular analysis of reverse mutations from nonagouti (a) to black-and-tan (a(t)) and white-bellied agouti (Aw) reveals alternative forms of agouti transcripts. Genes Dev 8(4):481-90. PubMed: 8125260MGI: J:16984
- Bultman SJ; Michaud EJ; Woychik RP. 1992. Molecular characterization of the mouse agouti locus. Cell 71(7):1195-204. PubMed: 1473152MGI: J:3523
- Bultman SJ; Russell LB; Gutierrez-Espeleta GA; Woychik RP. 1991. Molecular characterization of a region of DNA associated with mutations at the agouti locus in the mouse. Proc Natl Acad Sci U S A 88(18):8062-6. PubMed: 1896452MGI: J:16567
- Bundschuh VG; Madry M. 1988. [atwp mutation in an albino mouse substrain (AB/Hum-1)] Z Versuchstierkd 31(6):249-54. PubMed: 3227730MGI: J:16568
- Butler AE; Janson J; Soeller WC; Butler PC. 2003. Increased beta-cell apoptosis prevents adaptive increase in beta-cell mass in mouse model of type 2 diabetes: evidence for role of islet amyloid formation rather than direct action of amyloid. Diabetes 52(9):2304-14. PubMed: 12941770MGI: J:132530
- Cattanach BM. 1961. A chemically-induced variegated-type position effect in the mouse. Z Vererbungsl 92:165-82. PubMed: 13877379MGI: J:160128
- Cook S; Johnson K. 1994. Remutation to slaty Mouse Genome 92:672. MGI: J:27515
- Cropley JE; Suter CM; Beckman KB; Martin DI. 2006. Germ-line epigenetic modification of the murine A vy allele by nutritional supplementation. Proc Natl Acad Sci U S A 103(46):17308-12. PubMed: 17101998MGI: J:117156
- De Souza J; Butler AA; Cone RD. 2000. Disproportionate inhibition of feeding in A(y) mice by certain stressors: a cautionary note. Neuroendocrinology 72(2):126-32. PubMed: 10971147MGI: J:102986
- Dickie MM. 1969. Mutations at the agouti locus in the mouse. J Hered 60(1):20-5. PubMed: 5798139MGI: J:30922
- Duchesnes CE; Naggert JK; Tatnell MA; Beckman N; Marnane RN; Rodrigues JA; Halim A; Pontre B; Stewart AW; Wolff GL; Elliott R; Mountjoy KG. 2009. New Zealand Ginger Mouse: Novel model that associates the tyrp1b pigmentation gene locus with regulation of lean body mass. Physiol Genomics 37(3):164-74. PubMed: 19293329MGI: J:146052
- Dunn LC. 1928. A Fifth Allelomorph in the Agouti Series of the House Mouse. Proc Natl Acad Sci U S A 14(10):816-9. PubMed: 16587414MGI: J:15011
- Dunn LC. 1945. A New Eye Color Mutant in the Mouse with Asymmetrical Expression. Proc Natl Acad Sci U S A 31(11):343-6. PubMed: 16578176MGI: J:13122
- Dunn LC; Macdowell EC; Lebedeff GA. 1937. Studies on Spotting Patterns III. Interaction between Genes Affecting White Spotting and Those Affecting Color in the House Mouse. Genetics 22(2):307-18. PubMed: 17246842MGI: J:12954
- Enshell-Seijffers D; Lindon C; Morgan BA. 2008. The serine protease Corin is a novel modifier of the Agouti pathway. Development 135(2):217-25. PubMed: 18057101MGI: J:130426
- Feuerer M; Herrero L; Cipolletta D; Naaz A; Wong J; Nayer A; Lee J; Goldfine AB; Benoist C; Shoelson S; Mathis D. 2009. Lean, but not obese, fat is enriched for a unique population of regulatory T cells that affect metabolic parameters. Nat Med 15(8):930-9. PubMed: 19633656MGI: J:152186
- Franz T. 1994. Extra-toes (Xt) homozygous mutant mice demonstrate a role for the Gli-3 gene in the development of the forebrain. Acta Anat (Basel) 150(1):38-44. PubMed: 7976186MGI: J:19818
- Fujimoto W; Shiuchi T; Miki T; Minokoshi Y; Takahashi Y; Takeuchi A; Kimura K; Saito M; Iwanaga T; Seino S. 2007. Dmbx1 is essential in agouti-related protein action. Proc Natl Acad Sci U S A 104(39):15514-9. PubMed: 17873059MGI: J:125193
- Gajewska M; Krysiak E; Wirth-Dziecialowska E. 2010. New coat color mutation mapped in distal part MMU10 MGI Direct Data Submission :. MGI: J:162146
- Galbraith DB; Arceci RJ. 1974. Melanocyte populations of yellow and black hair bulbs in the mouse. J Hered 65(6):381-2. PubMed: 4448905MGI: J:5512
- Galbraith DB; Patrignani AM. 1976. Sulfhydryl compounds in melanocytes of yellow (Ay/a), nonagouti (a/a), and agouti (A/A) mice. Genetics 84(3):587-91. PubMed: 1001879MGI: J:5737
- Galbraith DB; Wolff GL; Brewer NL. 1979. Tissue microenvironment and the genetic control of hair pigment patterns in mice Dev Genet 1(2):167-179. MGI: J:156092
- Galbraith DB; Wolff GL; Brewer NL. 1980. Hair pigment patterns in different integumental environments of the mouse. Influence of the agouti suppressor (A<sup>s</sup>) mutation on expression of agouti locus alleles. J Hered 71:229-234. MGI: J:12033
- Geschwind II; Huseby RA; Nishioka R. 1972. The effect of melanocyte-stimulating hormone on coat color in the mouse. Recent Prog Horm Res 28:91-130. PubMed: 4631622MGI: J:5324
- Granholm DE; Reese RN; Granholm NH. 1996. Agouti alleles alter cysteine and glutathione concentrations in hair follicles and serum of mice (A y/a, A wJ/A wJ, and a/a). J Invest Dermatol 106(3):559-63. PubMed: 8648194MGI: J:32132
- Gruneberg H. 1952. . In: The Genetics of the Mouse. Martinus Nijhoff, The Hague. MGI: J:30758
- Heaney JD; Michelson MV; Youngren KK; Lam MY; Nadeau JH. 2009. Deletion of eIF2beta suppresses testicular cancer incidence and causes recessive lethality in agouti-yellow mice. Hum Mol Genet 18(8):1395-404. PubMed: 19168544MGI: J:146879
- Hearing VJ; Phillips P; Lutzner MA. 1973. The fine structure of melanogenesis in coat color mutants of the mouse. J Ultrastruct Res 43(1):88-106. PubMed: 4634048MGI: J:5346
- Horike N; Kumagai A; Shimono Y; Onishi T; Itoh Y; Sasaki T; Kitagawa K; Hatano O; Takagi H; Susumu T; Teraoka H; Kusano K; Nagaoka Y; Kawahara H; Takemori H. 2010. Downregulation of SIK2 expression promotes the melanogenic program in mice. Pigment Cell Melanoma Res 23(6):809-19. PubMed: 20819186MGI: J:215877
- Hustad CM; Perry WL; Siracusa LD; Rasberry C; Cobb L; Cattanach BM; Kovatch R; Copeland NG; Jenkins NA. 1995. Molecular genetic characterization of six recessive viable alleles of the mouse agouti locus. Genetics 140(1):255-65. PubMed: 7635290MGI: J:24934
- Iwatsuka H; Shino A; Suzuoki Z. 1970. General survey of diabetic features of yellow KK mice. Endocrinol Jpn 17(1):23-35. PubMed: 5468422MGI: J:26460
- Jackson IJ; Budd PS; Keighren M; McKie L. 2007. Humanized MC1R transgenic mice reveal human specific receptor function. Hum Mol Genet 16(19):2341-8. PubMed: 17652101MGI: J:129904
- Kaelin CB; Xu X; Hong LZ; David VA; McGowan KA; Schmidt-Kuntzel A; Roelke ME; Pino J; Pontius J; Cooper GM; Manuel H; Swanson WF; Marker L; Harper CK; van Dyk A; Yue B; Mullikin JC; Warren WC; Eizirik E; Kos L; O'Brien SJ; Barsh GS; Menotti-Raymond M. 2012. Specifying and sustaining pigmentation patterns in domestic and wild cats. Science 337(6101):1536-41. PubMed: 22997338MGI: J:188277
- Kaminen-Ahola N; Ahola A; Maga M; Mallitt KA; Fahey P; Cox TC; Whitelaw E; Chong S. 2010. Maternal ethanol consumption alters the epigenotype and the phenotype of offspring in a mouse model. PLoS Genet 6(1):e1000811. PubMed: 20084100MGI: J:156866
- Kappenman KE; Dvoracek MA; Harvison GA; Fuller BB; Granholm NH. 1992. Tyrosinase abundance and activity in murine hairbulb melanocytes of agouti mutants (C57BL/6J-a/a, Ay/a, and AwJ/AwJ). Pigment Cell Res Suppl 2:79-83. PubMed: 1409442MGI: J:1295
- Knisely AS; Gasser DL; Silvers WK. 1975. Expression in organ culture of agouti locus genes of the mouse. Genetics 79(3):471-5. PubMed: 1126628MGI: J:5533
- Lamoreux ML; Wakamatsu K; Ito S. 2001. Interaction of major coat color gene functions in mice as studied by chemical analysis of eumelanin and pheomelanin. Pigment Cell Res 14(1):23-31. PubMed: 11277491MGI: J:103803
- Lane PW. 1989. Mottled agouti-J (am-J) Mouse News Lett 84:89. MGI: J:16570
- Leamy LJ; Hrubant HE. 1971. Effects of alleles at the agouti locus on odontometric traits in the C57BL-6 strain of house mice. Genetics 67(1):87-96. PubMed: 5556294MGI: J:16571
- Loosli R. 1963. Tanoid--a new agouti mutant in the mouse. J Hered 54:26-29. MGI: J:13082
- Markert CL; Silvers WK. 1956. The Effects of Genotype and Cell Environment on Melanoblast Differentiation in the House Mouse. Genetics 41(3):429-50. PubMed: 17247639MGI: J:12970
- Martin NM; Houston PA; Patterson M; Sajedi A; Carmignac DF; Ghatei MA; Bloom SR; Small CJ. 2006. Abnormalities of the somatotrophic axis in the obese agouti mouse. Int J Obes (Lond) 30(3):430-8. PubMed: 16172617MGI: J:151302
- Martinez HG; Quinones MP; Jimenez F; Estrada CA; Clark K; Muscogiuri G; Sorice G; Musi N; Reddick RL; Ahuja SS. 2011. Critical role of chemokine (C-C motif) receptor 2 (CCR2) in the KKAy + Apoe -/- mouse model of the metabolic syndrome. Diabetologia 54(10):2660-8. PubMed: 21779871MGI: J:177084
- Mayer TC; Fishbane JL. 1972. Mesoderm-ectoderm interaction in the production of the agouti pigmentation pattern in mice. Genetics 71(2):297-303. PubMed: 4558326MGI: J:5288
- Miller MW; Duhl DM; Vrieling H; Cordes SP; Ollmann MM; Winkes BM; Barsh GS. 1993. Cloning of the mouse agouti gene predicts a secreted protein ubiquitously expressed in mice carrying the lethal yellow mutation. Genes Dev 7(3):454-67. PubMed: 8449404MGI: J:4186
- Miyazaki M; Sampath H; Liu X; Flowers MT; Chu K; Dobrzyn A; Ntambi JM. 2009. Stearoyl-CoA desaturase-1 deficiency attenuates obesity and insulin resistance in leptin-resistant obese mice. Biochem Biophys Res Commun 380(4):818-22. PubMed: 19338759MGI: J:147343
- Monroe DG; Wipf LP; Diggins MR; Matthees DP; Granholm NH. 1998. Agouti-related maturation and tissue distribution of alpha-Melanocyte Stimulating Hormone in wild-type (AwJ/AwJ) and mutant (Ay/a,a/a) mice. Pigment Cell Res 11(5):310-3. PubMed: 9877102MGI: J:52183
- Moore KJ; Swing DA; Copeland NG; Jenkins NA. 1990. Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations [published erratum appears in Genetics 1990 Sep;126(1):285] Genetics 125(2):421-30. PubMed: 2379821MGI: J:29467
- Moyer FH. 1966. Genetic variations in the fine structure and ontogeny of mouse melanin granules. Am Zool 6(1):43-66. PubMed: 5902512MGI: J:5001
- Mutant Mouse Regional Resource Centers. 2004. Information obtained from the Mutant Mouse Regional Resource Centers (MMRRC) Unpublished :. MGI: J:94077
- Novak EK; Gautam R; Reddington M; Collinson LM; Copeland NG; Jenkins NA; McGarry MP; Swank RT. 2002. The regulation of platelet-dense granules by Rab27a in the ashen mouse, a model of Hermansky-Pudlak and Griscelli syndromes, is granule-specific and dependent on genetic background. Blood 100(1):128-35. PubMed: 12070017MGI: J:77395
- Novak EK; Wieland F; Jahreis GP; Swank RT. 1980. Altered secretion of kidney lysosomal enzymes in the mouse pigment mutants ruby-eye, ruby-eye-2-J, and maroon. Biochem Genet 18(5-6):549-61. PubMed: 6776948MGI: J:6422
- Nuotio-Antar AM; Hachey DL; Hasty AH. 2007. Carbenoxolone treatment attenuates symptoms of metabolic syndrome and atherogenesis in obese, hyperlipidemic mice. Am J Physiol Endocrinol Metab 293(6):E1517-28. PubMed: 17878220MGI: J:145108
- Papacleovoulou G; Abu-Hayyeh S; Nikolopoulou E; Briz O; Owen BM; Nikolova V; Ovadia C; Huang X; Vaarasmaki M; Baumann M; Jansen E; Albrecht C; Jarvelin MR; Marin JJ; Knisely AS; Williamson C. 2013. Maternal cholestasis during pregnancy programs metabolic disease in offspring. J Clin Invest 123(7):3172-81. PubMed: 23934127MGI: J:201610
- Pettitt SJ; Liang Q; Rairdan XY; Moran JL; Prosser HM; Beier DR; Lloyd KC; Bradley A; Skarnes WC. 2009. Agouti C57BL/6N embryonic stem cells for mouse genetic resources. Nat Methods :1-3. PubMed: 19525957MGI: J:149352
- Poole TW. 1982. The agouti suppressor (As) coat color mutation in mice: developmental effects on the expression of agouti locus alleles. J Exp Zool 220(1):57-64. PubMed: 7077265MGI: J:6763
- Poole TW. 1975. Dermal-epidermal interactions and the action of alleles at the agouti locus in the mouse. Dev Biol 42(2):203-10. PubMed: 1090472MGI: J:5519
- Quevedo WC Jr.; Chase HB. 1958. An analysis of the light mutation of coat color in mice. J Morphol 102:329-345. MGI: J:13094
- Quevedo WC Jr; Holstein TJ. 1992. The shift from physiological genetics to molecular genetics in the study of mouse tyrosinase. Pigment Cell Res Suppl 2:57-60. PubMed: 1409439MGI: J:3852
- RUSSELL ES. 1949. A quantitative histological study of the pigment found in the coat-color mutants of the house mouse; interdependence among the variable granule attributes. Genetics 34(2):133-45. PubMed: 18117146MGI: J:148461
- Rakyan VK; Chong S; Champ ME; Cuthbert PC; Morgan HD; Luu KV; Whitelaw E. 2003. Transgenerational inheritance of epigenetic states at the murine Axin(Fu) allele occurs after maternal and paternal transmission. Proc Natl Acad Sci U S A 100(5):2538-43. PubMed: 12601169MGI: J:82396
- Rice RH; Bradshaw KM; Durbin-Johnson BP; Rocke DM; Eigenheer RA; Phinney BS; Sundberg JP. 2012. Differentiating inbred mouse strains from each other and those with single gene mutations using hair proteomics. PLoS One 7(12):e51956. PubMed: 23251662MGI: J:195664
- Rosenfeld CS; Sieli PT; Warzak DA; Ellersieck MR; Pennington KA; Roberts RM. 2013. Maternal exposure to bisphenol A and genistein has minimal effect on A(vy)/a offspring coat color but favors birth of agouti over nonagouti mice. Proc Natl Acad Sci U S A 110(2):537-42. PubMed: 23267115MGI: J:193279
- Russell ES. 1948. A Quantitative Histological Study of the Pigment Found in the Coat Color Mutants of the House Mouse. II. Estimates of the Total Volume of Pigment. Genetics 33(3):228-36. PubMed: 17247280MGI: J:148462
- Russell ES. 1946. A Quantitative Histological Study of the Pigment Found in the Coat-Color Mutants of the House Mouse. I. Variable Attributes of the Pigment Granules. Genetics 31(3):327-46. PubMed: 17247200MGI: J:148463
- Russell ES. 1949. A Quantitative Histological Study of the Pigment Found in the Coat-Color Mutants of the House Mouse. IV. the Nature of the Effects of Genic Substitution in Five Major Allelic Series. Genetics 34(2):146-66. PubMed: 17247308MGI: J:12958
- Russell LB. 1964. Genetic and Functional Mosaicism in the Mouse. In: The Role of the Chromosomes in Development. Academic Press, New York. MGI: J:29504
- Russell LB; Cupp McDaniel MN; Woodiel FN. 1963. Crossing over within the a "locus" of the mouse Genetics 48:907 Abstr. MGI: J:174047
- SILVERS WK. 1958. An experimental approach to action of genes at the agouti locus in the mouse. III. Transplants of newborn Aw-, A-and at-skin to Ay-, Aw-, A-and aa hosts. J Exp Zool 137(1):189-96. PubMed: 13563791MGI: J:13013
- Sakurai T; Ochiai H; Takeuchi T. 1975. Ultrastructural change of melanosomes associated with agouti pattern formation in mouse hair. Dev Biol 47(2):466-71. PubMed: 1204945MGI: J:5606
- 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: J:78801
- Soeller WC; Janson J; Hart SE; Parker JC; Carty MD; Stevenson RW; Kreutter DK; Butler PC. 1998. Islet amyloid-associated diabetes in obese A(vy)/a mice expressing human islet amyloid polypeptide. Diabetes 47(5):743-50. PubMed: 9588445MGI: J:133694
- Staats J. 1985. Standardized Nomenclature for Inbred Strains of Mice: eighth listing. Cancer Res 45(3):945-77. PubMed: 3971387MGI: J:50296
- Suto J. 2008. Coincidence of loci for glucosuria and obesity in type 2 diabetes-prone KK-Ay mice. Med Sci Monit 14(2):CR65-74. PubMed: 18227763MGI: J:131439
- Suto J. 2009. Identification of multiple quantitative trait loci affecting the size and shape of the mandible in mice. Mamm Genome 20(1):1-13. PubMed: 19067046MGI: J:143893
- Suto J; Matsuura S; Imamura K; Yamanaka H; Sekikawa K. 1998. Genetics of obesity in KK mouse and effects of A(y) allele on quantitative regulation. Mamm Genome 9(7):506-10. PubMed: 9657845MGI: J:48704
- Suwa A; Yoshino M; Yamazaki C; Naitou M; Fujikawa R; Matsumoto S; Kurama T; Shimokawa T; Aramori I. 2010. RMI1 deficiency in mice protects from diet and genetic-induced obesity. FEBS J 277(3):677-86. PubMed: 20050919MGI: J:168271
- Sweet SE; Quevedo WC Jr. 1968. Role of melanocyte morphology in pigmentation of mouse hair. Anat Rec 162(2):243-54. PubMed: 5726144MGI: J:5095
- Tamate HB; Takeuchi T. 1981. Induction of the shift in melanin synthesis in lethal yellow (A<y>/a) mice in vitro. Dev Genet 2:349-356. MGI: J:11956
- Tanaka S; Kuwahara S; Nishijima K; Ohno T; Matsuzawa A. 2006. Genetic association of mutation at agouti locus with adrenal x zone morphology in BALB/c mice. Exp Anim 55(4):343-7. PubMed: 16880681MGI: J:111619
- Tanaka S; Nishimura M; Matsuzawa A. 1994. Genetic association between agouti locus and adrenal X zone morphology in SM/J mice. Acta Anat (Basel) 149(3):170-3. PubMed: 7976166MGI: J:19308
- The Jackson Laboratory Office of Genetic Resources. 1983. Registry of Remutation at The Jackson Laboratory, 1983-1984 MGI Direct Data Submission :. MGI: J:79402
- The Jackson Laboratory Office of Genetic Resources. 1979. Registry of Remutations at The Jackson Laboratory, 1979-1980 MGI Direct Data Submission :. MGI: J:78474
- The Mammalian Genetics Unit at Harwell. 2004. Information obtained from the Mammalian Genetics Unit, Medical Research Council (MRC), Harwell, UK Unpublished :. MGI: J:90559
- Tsuruta Y; Yoshimatsu H; Hidaka S; Kondou S; Okamoto K; Sakata T. 2002. Hyperleptinemia in A(y)/a mice upregulates arcuate cocaine- and amphetamine-regulated transcript expression. Am J Physiol Endocrinol Metab 282(4):E967-73. PubMed: 11882520MGI: J:75872
- Vrieling H; Duhl DM; Millar SE; Miller KA; Barsh GS. 1994. Differences in dorsal and ventral pigmentation result from regional expression of the mouse agouti gene. Proc Natl Acad Sci U S A 91(12):5667-71. PubMed: 8202545MGI: J:18750
- Wolff GL. 1978. Influence of maternal phenotype on metabolic differentiation of agouti locus mutants in the mouse. Genetics 88(3):529-39. PubMed: 640377MGI: J:5964
- Woychik RP; Generoso WM; Russell LB; Cain KT; Cacheiro NL; Bultman SJ; Selby PB; Dickinson ME; Hogan BL; Rutledge JC. 1990. Molecular and genetic characterization of a radiation-induced structural rearrangement in mouse chromosome 2 causing mutations at the limb deformity and agouti loci. Proc Natl Acad Sci U S A 87(7):2588-92. PubMed: 2320577MGI: J:10399
- Wu Q; Howell MP; Cowley MA; Palmiter RD. 2008. Starvation after AgRP neuron ablation is independent of melanocortin signaling. Proc Natl Acad Sci U S A 105(7):2687-92. PubMed: 18272480MGI: J:132184
- Zevnik B; Uyttersprot NC; Perez AV; Bothe GW; Kern H; Kauselmann G. 2014. C57BL/6N albino/agouti mutant mice as embryo donors for efficient germline transmission of C57BL/6 ES cells. PLoS One 9(3):e90570. PubMed: 24599260MGI: J:213411
- Zheng B; Sage M; Cai WW; Thompson DM; Tavsanli BC; Cheah YC; Bradley A. 1999. Engineering a mouse balancer chromosome. Nat Genet 22(4):375-8. PubMed: 10431243MGI: J:56548
Additional - Hoxa13Hd related
- Akiyama H; Stadler HS; Martin JF; Ishii TM; Beachy PA; Nakamura T; de Crombrugghe B. 2007. Misexpression of Sox9 in mouse limb bud mesenchyme induces polydactyly and rescues hypodactyly mice. Matrix Biol 26(4):224-33. PubMed: 17222543MGI: J:121946
- Hummel KP. 1970. Hypodactyly, a semidominant lethal mutation in mice. J Hered 61(5):219-20. PubMed: 5519671MGI: J:5211
- Hummel KP; Chapman DB. 1966. Hd - hypodactyly Mouse News Lett 34:31. MGI: J:64253
- Kondo T; Zakany J; Innis JW; Duboule D. 1997. Of fingers, toes and penises. Nature 390(6655):29. PubMed: 9363887MGI: J:111118
- Mortlock DP; Post LC; Innis JW. 1996. The molecular basis of hypodactyly (Hd): a deletion in Hoxa 13 leads to arrest of digital arch formation. Nat Genet 13(3):284-9. PubMed: 8673126MGI: J:33715
- Podlasek CA; Clemens JQ; Bushman W. 1999. Hoxa-13 gene mutation results in abnormal seminal vesicle and prostate development. J Urol 161(5):1655-61. PubMed: 10210434MGI: J:54823
- Post LC; Innis JW. 1999. Altered Hox expression and increased cell death distinguish Hypodactyly from Hoxa13 null mice. Int J Dev Biol 43(4):287-94. PubMed: 10470645MGI: J:56986
- Post LC; Innis JW. 1999. Infertility in adult hypodactyly mice is associated with hypoplasia of distal reproductive structures. Biol Reprod 61(6):1402-8. PubMed: 10569982MGI: J:58731
- Post LC; Margulies EH; Kuo A; Innis JW. 2000. Severe limb defects in Hypodactyly mice result from the expression of a novel, mutant HOXA13 protein. Dev Biol 217(2):290-300. PubMed: 10625554MGI: J:59926
- Robertson KE; Chapman MH; Adams A; Tickle C; Darling SM. 1996. Cellular analysis of limb development in the mouse mutant hypodactyly. Dev Genet 19(1):9-25. PubMed: 8792605MGI: J:35173
- Robertson KE; Tickle C; Darling SM. 1997. Shh, Fgf4 and Hoxd gene expression in the mouse limb mutant hypodactyly. Int J Dev Biol 41(5):733-6. PubMed: 9415493MGI: J:46340
Additional - 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: 9745961MGI: 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: 17663432MGI: 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: 12403827MGI: 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: 18754773MGI: 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: 18048323MGI: 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: 12209292MGI: 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: 4557539MGI: J:5286
- Lane PW. 1969. Va<J> - varitint-waddler-Jackson Mouse News Lett 41:32. MGI: 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: 18162548MGI: 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: 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: 18801844MGI: J:176565