Description

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 Mutant Mice. Mating System Heterozygote x Homozygote         (Female x Male) Species laboratory mouse Generation NE7 (30-DEC-04)

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.

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 Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Mitf^Mi-Mee/Mitf⁺

        involves: C57BL/6 * FVB

• pigmentation phenotype
• abnormal retinal pigmentation (MGI Ref ID J:140311)
  • heterozygotes have a solid pink retina with small areas of pigment
  • 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
• reduced eye pigmentation (MGI Ref ID J:140311)
  • pink eyes
• vision/eye phenotype
• abnormal retinal pigmentation (MGI Ref ID J:140311)
  • heterozygotes have a solid pink retina with small areas of pigment
  • 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
• reduced eye pigmentation (MGI Ref ID J:140311)
  • pink eyes

Mitf^Mi-Mee/Mitf^Mi-Mee

        involves: C57BL/6 * FVB

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

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

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

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)		MI; WS2A; bHLHe32; black eyed white; bw; mi; microphthalmia; vit; vitiligo; wh;
Molecular Note		This allele is defined by a noncomplementation test with Mitfmi.

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

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

Room Number           A1

Colony Maintenance

Mating System	Heterozygote x Homozygote         (Female x Male)

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 Eye Mutant Resource within the Mouse Mutant Resource collection.

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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Terms of Use

Terms of Use

General Terms and Conditions

Contact information

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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.”

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