About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3513118
Allelic
Composition
MitfMi/MitfMi
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
MitfMi mutation (3 available); any Mitf mutation (72 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

MitfMi/MitfMi and control

mortality/aging
• viability is very low
• most die at weaning but infrequently some live several months

pigmentation
• homozygotes are white (J:125080)
• at E10.5 the pigment layer is thicker than in control littermates and this is more prominent dorsally where the layer is irregular
• at E11.5, this layer is a thickened monolayer ventrally and an irregular multilayered structure dorsally
• at E11.5 layer thickness is increased and dorsal regions are particularly thickened and wavy
• at P0, the ventral and ventral lateral portions of the layer are mainly a cuboidal monolayer while the dorsal and dorsal-lateral areas are composed of columnar cells in irregular multiple layers
• at P0 folds are present
• at all stages the mitotic values in the pigment layer is increased compared to controls
• complete absence of pigment granules at E11.5 and at P0

skeleton
• incisors fail to erupt
• cells are smaller, rounder, and contain fewer nuclei than in heterozygous controls
• the ratio of regular to irregular nuclei is significantly greater in homozygotes compared to heterozygous controls
• cells contain greater amounts of cytoplasmic basophilia and cytoplasmic RNA compared to heterozygous controls
• increase in the number of osteoclasts on the parietal bones of most homozygotes at P0, P3, P7.5 and P10 compared to heterozygous controls
• probable defect is in progenitor osteoclasts and can be transmitted via transplanted spleen and bone marrow cells
• cells show defects in function and hormone response and fusion disability

vision/eye
• thicker and less folded than in control littermates at P0
• at E10.5 - E12 the average number of mitoses in the nervous layer of the retina is increased1.2 to 1.4 times compared to controls; however unlike in controls the number of mitoses does not increase from E14 - E16
• at all stages the mitotic values in the pigment layer is increased compared to controls
• arching of the cup is reduced and the medial-lateral diameter is increased at E10.5
• abnormal morphology persists through E11.5
• at P0 the cup is poorly arched around the lens
• increased diameter of the stalk at E10.5
• abnormal morphology persists through E11.5
• optic stalk is still present at E14, E16, and P0 when in control littermates it is nearly or completely absent
• at E16, the optic canal is open to the brain and this coloboma extends along the entire ventral surface of the optic cup and optic stalk
• in anterior regions the edges of the coloboma do not meet while in ventral regions the edges overlap
• at P0, the coloboma is wider at its anterior edge with overlapping edges in the posterior region and inversion of the pigmented layer is seen along one or both edges
• first detectable at E14, becoming more obvious with age (J:5046)
• the eyes are severely reduced in size (J:125080)
• the lens fills the space normally occupied by the vitreous body
• at P0, the optic canal is open and nerve fibers pass toward the brain along the optic stalk; however, no defined optic nerve is present
• at E10.5 the pigment layer is thicker than in control littermates and this is more prominent dorsally where the layer is irregular
• at E11.5, this layer is a thickened monolayer ventrally and an irregular multilayered structure dorsally
• at E11.5 layer thickness is increased and dorsal regions are particularly thickened and wavy
• at P0, the ventral and ventral lateral portions of the layer are mainly a cuboidal monolayer while the dorsal and dorsal-lateral areas are composed of columnar cells in irregular multiple layers
• at P0 folds are present
• at all stages the mitotic values in the pigment layer is increased compared to controls
• complete absence of pigment granules at E11.5 and at P0
• the nervous layer is irregular in thickness, folded and the strata are less clearly defined
• at E10.5 - E12 the average number of mitoses in the nervous layer of the retina is increased1.2 to 1.4 times compared to controls; however unlike in controls the number of mitoses does not increase from E14 - E16
• remains open at E12 and in areas along the edges inversion of the pigment epithelium is seen

immune system
• deficiency in gut and liver
• cells are smaller, rounder, and contain fewer nuclei than in heterozygous controls
• the ratio of regular to irregular nuclei is significantly greater in homozygotes compared to heterozygous controls
• cells contain greater amounts of cytoplasmic basophilia and cytoplasmic RNA compared to heterozygous controls
• increase in the number of osteoclasts on the parietal bones of most homozygotes at P0, P3, P7.5 and P10 compared to heterozygous controls

nervous system
• at P0, the optic canal is open and nerve fibers pass toward the brain along the optic stalk; however, no defined optic nerve is present

craniofacial
• incisors fail to erupt

hematopoietic system
• deficiency in gut and liver
• cells are smaller, rounder, and contain fewer nuclei than in heterozygous controls
• the ratio of regular to irregular nuclei is significantly greater in homozygotes compared to heterozygous controls
• cells contain greater amounts of cytoplasmic basophilia and cytoplasmic RNA compared to heterozygous controls
• increase in the number of osteoclasts on the parietal bones of most homozygotes at P0, P3, P7.5 and P10 compared to heterozygous controls

hearing/vestibular/ear
• no section of the cochlear duct was ever found to be normal
• abnormal in its entirety
• the majority of ears show dedifferentiation and cellular migrations in the cochlear duct and the saccule

integument
• homozygotes are white (J:125080)

growth/size/body
• incisors fail to erupt


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/12/2024
MGI 6.23
The Jackson Laboratory