Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Former Names B6(FVB)-MitfMi-2J/J    (Changed: 21-JAN-05 ) STOCK MitfMi-2J/J    (Changed: 12-JAN-05 ) Type Mutant Stock; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse

Appearance
white with pink eyes
Related Genotype: a/a Mitf^Mee/Mitf^Mee

black with pink eyes
Related Genotype: a/a Mitf^Mi-2J/+

Description
On the C57BL/6 background, homozygotes have a white coat color while heterozygotes have a black coat. Clinically, heterozygotes have variable amounts of pigment in the retina with a normal optic cup and retinal vessels. Homozygotes have an iris coloboma, a large optic cup and poor or no retinal vessels. Homozygotes show some pigment in the iris, which does not dilate.

Development
The Mitf^Mi-Mee allele (initially named Mitf^Mi-2J) was identified in a transgenic line but is found in mice not bearing this transgene. The trangene originated in an FVB background and was outcrossed to C57BL/6. In 1996 mice not carrying the transgene but bearing the Mitf mutation were imported into The Jackson Laboratory from Dr. Wendy Synder at Mass Eye and Ear. They were at backcross generation N5 to C57BL/6. They were backcrossed another two generations and then maintained by sibling mating primarily heterozygotes x homozygotes.

Control Information

	Control
	None Available
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Mitf

000593	B6 x B6CBCa Aw-J/A-Grid2Lc T(2;6)7Ca MitfMi-wh/J
000158	B6.Cg-MitfMi-wh/MitfMi/J
000184	B6.Cg-MitfMi-wh/Mitfmi-rw/J
000157	B6.Cg-MitfMi-wh/Mitfmi-sp/J
000057	B6.Cg-MitfMi-wh/J
000350	B6By.Cg-KitW-v MitfMi-wh T/J
001573	B6C3Fe a/a-MitfMi/J
000956	B6CB-Mitfmi-rw/J
002611	C57BL/6J-Mitfmi-bws/J
002134	C57BL/6J-Mitfmi-vit/J
001253	STOCK MitfMi-wh +/+ Wnt7apx/J
000302	STOCK a/a MitfMi-wh +/+ Itpr1opt/J

View Strains carrying other alleles of Mitf     (12 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Albinism, Ocular, with Sensorineural Deafness   (MITF) Tietz Syndrome   (MITF) Waardenburg Syndrome, Type 2A; WS2A   (MITF)

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

Mitf^Mi-Mee/Mitf⁺

        involves: C57BL/6 * FVB

• pigmentation phenotype
• abnormal retinal pigmentation
  • heterozygotes have a solid pink retina with small areas of pigment   (MGI Ref ID J:140311)
  • by 2 months of age, pigment loss occurs in the center retina, however the periphery is normal and pigment granules can be seen in the outer segments   (MGI Ref ID J:140311)
• decreased eye pigmentation
  • pink eyes   (MGI Ref ID J:140311)
• vision/eye phenotype
• abnormal retinal pigmentation
  • heterozygotes have a solid pink retina with small areas of pigment   (MGI Ref ID J:140311)
  • by 2 months of age, pigment loss occurs in the center retina, however the periphery is normal and pigment granules can be seen in the outer segments   (MGI Ref ID J:140311)
• decreased eye pigmentation
  • pink eyes   (MGI Ref ID J:140311)

Mitf^Mi-Mee/Mitf^Mi-Mee

        involves: C57BL/6 * FVB

• vision/eye phenotype
• abnormal iris pigmentation
  • some pigment is observed in the iris at 27 days   (MGI Ref ID J:140311)
• abnormal lens morphology
  • in one 27 day old homozygous female, iris is attached to lens   (MGI Ref ID J:140311)
• • vacuolated lens
    • in one 27 day old homozygous female, lens vacuoles are present   (MGI Ref ID J:140311)
• abnormal optic cup morphology
  • at 27 days optic cup is observed to be larger than control   (MGI Ref ID J:140311)
• abnormal retina morphology
  • in one 27 day old homozygous female, dysplasia is observed in the central retina and areas of the periphery and outer segments are missing   (MGI Ref ID J:140311)
• • abnormal retinal pigmentation
    • in one 27 day old homozygous female no pigment appears in the retinal pigment epithelium (RPE)   (MGI Ref ID J:140311)
• decreased eye pigmentation
  • pink eyes   (MGI Ref ID J:140311)
• impaired pupillary reflex
  • dilation is not observed in the pupil at 27 days   (MGI Ref ID J:140311)
• pigmentation phenotype
• abnormal iris pigmentation
  • some pigment is observed in the iris at 27 days   (MGI Ref ID J:140311)
• abnormal retinal pigmentation
  • in one 27 day old homozygous female no pigment appears in the retinal pigment epithelium (RPE)   (MGI Ref ID J:140311)
• absent coat pigmentation
  • homozygotes have a white coat   (MGI Ref ID J:140311)
• decreased eye pigmentation
  • pink eyes   (MGI Ref ID J:140311)
• behavior/neurological phenotype
• impaired pupillary reflex
  • dilation is not observed in the pupil at 27 days   (MGI Ref ID J:140311)
• integument phenotype
• absent coat pigmentation
  • homozygotes have a white coat   (MGI Ref ID J:140311)

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

Mitf^Mi-Mee/?

        involves: C57BL/6 * CAST * FVB

• pigmentation phenotype
• abnormal retinal pigmentation
  • heterozygotes exhibit a partial pink retina with variable penetrance of the phenotype (25%-90%)   (MGI Ref ID J:140311)
• decreased eye pigmentation
  • pink eyes   (MGI Ref ID J:140311)
• vision/eye phenotype
• abnormal retinal pigmentation
  • heterozygotes exhibit a partial pink retina with variable penetrance of the phenotype (25%-90%)   (MGI Ref ID J:140311)
• decreased eye pigmentation
  • pink eyes   (MGI Ref ID J:140311)

View Research Applications

Research Applications

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

Mitf^Mi-Mee related

Dermatology Research
Color and White Spotting Defects

Mouse/Human Gene Homologs
Waardenburg syndrome, type IIA

Sensorineural Research
Eye Defects

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		MitfMi-Mee
Allele Name		microphthalmia, Massachusetts Eye and Ear Infirmary
Allele Type		Spontaneous
Common Name(s)		MitfMi-2J;
Strain of Origin		involves: C57BL/6 * FVB/N
Gene Symbol and Name		Mitf, microphthalmia-associated transcription factor
Chromosome		6
Gene Common Name(s)		BCC2; CMM8; Gsfbcc2; MI; WS2; WS2A; bHLHe32; black eyed white; bw; gsf bright coat colour 2; mi; microphthalmia; vit; vitiligo; wh;
Molecular Note		This allele is defined by a noncomplementation test with Mitfmi.

Genotyping

Genotyping Information

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Mitf^Mi-Mee related

Snyder W; Hawes N. 2008. A new spontaneous allele of Mitf, Mi-mee MGI Direct Data Submission :.  [MGI Ref ID J:140311]

The Jackson Laboratory Office of Genetic Resources. 2000. Registry of Remutation at The Jackson Laboratory MGI Direct Data Submission :.  [MGI Ref ID J:94340]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

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

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

General Supply Notes

• This strain is included in the Eye Mutant Resource within the Mouse Mutant Resource collection.
• Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	None Available
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

See Terms of Use tab for General Terms and Conditions

The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX^® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX^® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX^® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.

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