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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
Description
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
Strain Information
Type Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Type Inbred Strain; Additional information on Inbred Strains. Visit our online Nomenclature tutorial. Species laboratory mouse H2 Haplotype k Generation F108 Important Note
This strain is homozygous for nonagouti, Tyrp1b and my.Development
The Frem2my mutation was identified in the early 1920s in offspring of irradiated grandparents. What is known of the mice that were irradiated is that they were of "a stock of colored animals that had been inbred for several years and hence was in a fairly homogeneous condition" that they "were obtained from Mrs. Gray, successor to A.E.C. Lathrop" (Bagg and Little,1924), and that the two irradiated founders of this line were both brown (Little and Bagg, 1923). Irradiated female #85 was bred to irradiated male #49, their offspring were sibling mated, and their inbred descendants are line 85. 17 mice in the F3 generation from these irradiated parents showed the most consistent deviant phenotype of Frem2my, eye abnormalities. In 1950 K.P. Hummel at The Jackson Laboratory reported breeding a C57BL/cdJ female to an F71 male from "line 85" which she had received from E.C. MacDowell in 1948 (Hummel, 1950). In 1951 she reported outcrossing an F8 male to a female C3H/Hu (later updated to C3HeB/HuJ by J. Staats, 1968). The F2 from this outcross were then bred to produce a line that was homozygous for a, Tyrpb, and Frem2my (Humel, 1951). In 1968 this homozygous inbred strain, called MY/Hu, was at F31 and has been maintained by sibling breeding since that time. In 1973 it was passed to Priscilla Lane at The Jackson Laboratory where it continued to be maintained by sibling breeding. Isoenzyme profiles in 1983 showed Pep3c and Car2a alleles in MY/HuLe which are distinct from both C3H and C57BR/cdJ profiles, while the other isoenzymes assayed are held in common with either C3H, C57BR/cdJ, or both. MY/HuLe embryos were frozen in 1988 and 1989 by sibling mating at F107 and beyond.
Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying Tyrp1b allele
000004 ABP/LeJ 000571 B6.Cg-Whrnwi Tyrp1b/+ +/J 000027 B6.D-Tyrp1b Dock7m/J 000670 DBA/1J 001045 SI/Col Tyrp1b Dnahc11iv/J 000064 STOCK a Tyrp1b Sisi/J 002238 STOCK a Tyrp1b shmy/J 001432 STOCK a/a Tyrp1b sks/Tyrp1b +/J 000594 STOCK T(2;8)26H a/T(2;8)26H a Tyrp1+/Tyrp1b/J 001101 STOCK T(3;4)5Rk Tyrp1b/J 000274 TSJ/LeJ View Strains carrying Tyrp1b (11 strains)
000957 AKXD28/TyJ 000093 B6.B10(D1)-Tyrp1b-c/J 008684 B6.Cg-Rag1tm1Mom Tyrp1B-w Tg(Tcra,Tcrb)9Rest/J 000068 C57BL/6J-Tyrp1b-J/J 000671 DBA/2J 006252 LT/SvEiJ 002142 STOCK 11R30m/J 000594 STOCK T(2;8)26H a/T(2;8)26H a Tyrp1+/Tyrp1b/J
Phenotype
Phenotype Information
Fraser Syndrome - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Frem2my/Frem2my
Background Not Specified
- embryogenesis phenotype
- abnormal embryonic tissue morphology (MGI Ref ID J:14847)
- in addition to the eye and facial defects the feet and legs can be impacted to varying degrees including absent, shortened, or malformed digits, hemorrhagic lesions on the digits and legs, twisted foot or paw, or badly distorted leg
- vision/eye phenotype
- abnormal eye development (MGI Ref ID J:14847)
- a clear lesion in the region of the eye is generally found at birth and the severity is greatly variable extending to degeneration of the eye elements
- in cases where only one eye is abnormal it can be the left or right with no preference for one or the other
- eye bleb (MGI Ref ID J:14847)
- craniofacial phenotype
- abnormal craniofacial development (MGI Ref ID J:14847)
- abnormal facial morphology (MGI Ref ID J:14847)
- shortened foreface and considerable variation in the length and shape of the foreface can be found
- short snout (MGI Ref ID J:14847)
- skin/coat/nails phenotype
- bleb (MGI Ref ID J:14847)
- nervous system phenotype
- hydroencephaly (MGI Ref ID J:14847)
- in some stillborn
- lethality-prenatal/perinatal
- perinatal lethality (MGI Ref ID J:14847)
- some acephalic and extremely pale embryos are found and these are born dead
This mouse can be used to support research in many areas including:Frem2my related
Tyrp1b relatedDevelopmental Biology Research
Craniofacial and Palate Defects
Embryonic Lethality (Homozygous)
Eye Defects
Internal/Organ Defects
kidney
Skeletal Defects
Internal/Organ Research
Kidney Defects
Sensorineural Research
Cataracts
Eye Defects
Dermatology Research
Color and White Spotting Defects
Mouse/Human Gene Homologs
oculocutaneous albinism type III
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Frem2my | ||
|---|---|---|---|
| Allele Name | myelencephalic blebs | ||
| Allele Type | Radiation induced | ||
| Gene Symbol and Name | Frem2, Fras1 related extracellular matrix protein 2 | ||
| Chromosome | 3 | ||
| Gene Common Name(s) | 6030440P17Rik; 8430406N05Rik; DKFZp686J0811; DKFZp781I048; KIAA1074; RGD1566012; RIKEN cDNA 6030440P17 gene; RIKEN cDNA 8430406N05 gene; my; myelencephalic blebs; | ||
| General Note | Found among the descendants of irradiated mice (J:14847). Effects are variable, and penetrance is incomplete. This mutant has been the subject of a large number of investigations reviewed by Gr"uneberg (J:30758). The genetics and development were reinvestigated by Carter (J:221, J:13050) who concluded that the effects of this mutation include: embryonic subepidermal blebs leading to abnormalities of the eyes, skin, and hair, and clubbing of the feet; split sternum, pseudencephaly, acrania, renal agenesis, preaxial polydactyly, and syndactyly of the middle digits; and probably also hydronephrosis, ectopia viscerum, and midcerebral lesions. | ||
| Allele Symbol | Tyrp1b | ||
| Allele Name | brown | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | b; | ||
| Strain of Origin | old mutant of the mouse fancy | ||
| Gene Symbol and Name | Tyrp1, tyrosinase-related protein 1 | ||
| Chromosome | 4 | ||
| Gene Common Name(s) | B; CAS2; CATB; GP75; TRP; TRP-1; TRP1; TYRP; Tyrp; b; b-PROTEIN; brown; iris stromal atrophy; isa; tyrosinase-related protein; | ||
| General Note | The eumelanin of the hair and eyes is brown rather than black. The pigment granules also appear brown rather than black and are spheroid rather than ovoid in shape (J:12970). The fine structure of the developing pigment granules is fibrillar, like that of wild-type mice, but the appearance of the mature granule may be more coarsely granular (J:5346, J:5001, J:5068). The granules incorporate twice as much 14C-tyrosine as normal (J:12173). | ||
| Molecular Note | A G-to-A transition point mutation at position 329 was shown by revertant analysis to be responsible for the mutant phenotype seen in the brown mutant. This mutation is predicted to change a cysteine residue to a tyrosine in the encoded protein. Three other point mutations in the brown sequence were identified, but do not contribute to the mutant phenotype. [MGI Ref ID J:44435] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
| Strain of Origin | old mutant of the mouse fancy | ||
| Gene Symbol and Name | a, nonagouti | ||
| Chromosome | 2 | ||
| Gene Common Name(s) | AGSW; AGTI; AGTIL; ASP; As; MGC126092; MGC126093; SHEP9; agouti; agouti signal protein; agouti suppressor; | ||
| 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. [MGI Ref ID J:16984] [MGI Ref ID J:24934] | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
Center EM; Emery KE. 1997. Acidic glycosaminoglycans and laminin-1 in renal corpuscles of mutant blebs (my) and control mice. Histol Histopathol 12(4):901-7. [PubMed: 9302549] [MGI Ref ID J:43359]
Center EM; Polizotto RS. 1992. Etiology of the developing eye in myelencephalic blebs (my) mice. Histol Histopathol 7(2):231-6. [PubMed: 1515706] [MGI Ref ID J:1440]
Frem2my relatedTyrp1b relatedCarter TC. 1959. Embryology of the Little and Bagg X-rayed mouse stock. J Genet 56:401-434. [MGI Ref ID J:13050]
Carter TC. 1956. Genetics of the little and Bagg X-rayed mouse stock J Genet 54:311-26. [MGI Ref ID J:221]
Center EM. 1977. Genetical and embryological comparison of two mutations which cause foetal blebs in mice. Genet Res 29(2):147-57. [PubMed: 405279] [MGI Ref ID J:5810]
Center EM; Emery KE. 1997. Acidic glycosaminoglycans and laminin-1 in renal corpuscles of mutant blebs (my) and control mice. Histol Histopathol 12(4):901-7. [PubMed: 9302549] [MGI Ref ID J:43359]
Center EM; Polizotto RS. 1992. Etiology of the developing eye in myelencephalic blebs (my) mice. Histol Histopathol 7(2):231-6. [PubMed: 1515706] [MGI Ref ID J:1440]
Darling S; Gossler A. 1994. A mouse model for Fraser syndrome? Clin Dysmorphol 3(2):91-5. [PubMed: 8055142] [MGI Ref ID J:20762]
Gruneberg H. 1971. Exocrine glands and the Chievitz organ of some mouse mutants. J Embryol Exp Morphol 25(2):247-61. [PubMed: 5088022] [MGI Ref ID J:140462]
Gruneberg H. 1952. . In: The Genetics of the Mouse. Martinus Nijhoff, The Hague. [MGI Ref ID J:30758]
Kiyozumi D; Sugimoto N; Sekiguchi K. 2006. Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects. Proc Natl Acad Sci U S A 103(32):11981-6. [PubMed: 16880404] [MGI Ref ID J:111788]
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Little CC. 1916. The occurrence of three recognized coat mutations in mice Am Naturalist 1:335-349. [MGI Ref ID J:150254]
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: 17247639] [MGI Ref ID J:12970]
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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: 11277491] [MGI Ref ID J:103803]
Lane PW. 1989. Mottled agouti-J (am-J) Mouse News Lett 84:89. [MGI Ref ID 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: 5556294] [MGI Ref ID J:16571]
Loosli R. 1963. Tanoid--a new agouti mutant in the mouse. J Hered 54:26-29. [MGI Ref ID 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: 17247639] [MGI Ref ID 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: 16172617] [MGI Ref ID J:151302]
Mayer TC; Fishbane JL. 1972. Mesoderm-ectoderm interaction in the production of the agouti pigmentation pattern in mice. Genetics 71(2):297-303. [PubMed: 4558326] [MGI Ref ID 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: 8449404] [MGI Ref ID 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: 19338759] [MGI Ref ID 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: 9877102] [MGI Ref ID J:52183]
Moyer FH. 1966. Genetic variations in the fine structure and ontogeny of mouse melanin granules. Am Zool 6(1):43-66. [PubMed: 5902512] [MGI Ref ID J:5001]
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: 17878220] [MGI Ref ID J:145108]
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Health & husbandry
Health & Colony Maintenance Information
Currently there no information available for this strain. This may be due to the supply level of this strain.
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
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Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 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.
Additional Supply Details
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 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.
Additional Supply Details
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Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
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| Supply Notes |
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| Important Note | |
| This strain is homozygous for nonagouti, Tyrp1b and my. | |
Control Information
| Control | ||
|---|---|---|
| Untyped 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. | ||
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