Phenotypes Associated with This Genotype

Genotype
MGI:4356528

• Allelic Composition: Mitf^Mi-Or/Mitf^Mi-Or
• Genetic Background: involves: 101/Rl * C3H/Rl

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:13426 )

• mice die after weaning

• however, mice fed powdered food survive

reproductive system

female infertility ( J:13426 )

♀

skeleton

abnormal incisor morphology ( J:13426 )

• incisors are poorly formed if they erupt

failure of tooth eruption ( J:13426 , J:89821 )

• often (J:13426)

• incisors fail to erupt (J:89821)

abnormal osteoclast morphology ( J:30149 )

• increased size at P1 but not at P37 and 3 to 8 months

decreased osteoclast cell number ( J:30149 )

• at P37

increased osteoclast cell number ( J:30149 )

• at P1

abnormal osteoclast physiology ( J:30149 )

• TRAP activity is decreased at P37 but not at 3 to 8 months

abnormal long bone metaphysis morphology ( J:30149 )

• mice exhibit a slight widening of lateral length at the metaphyses of distal femurs and proximal tibiae unlike in wild-type mice

• at 10, 18, and 37 days, mice exhibit an accumulation of unresorbed endochondral trabeculae unlike in wild-type mice

• however, no accumulation occurs at the of primary spongiosa at the mid-diaphyses

• metaphyseal borders are irregular

decreased length of long bones ( J:30149 )

increased trabecular bone connectivity density ( J:30149 )

• mice exhibit increased density of the cancellous bone, with some cartilagenous matricies remaining inside the trabeculae at 3-4 months of age

• at 8 months, one mouse still had densely accumulated trabeculae in the caudal vertebrae

osteopetrosis ( J:30149 , J:89821 )

• mice exhibit osteopetrotic lesions during the first 5 weeks that improves after 3 months (J:30149)

• osteopetrosis is more severe than that seen in Mitf^mi-ew homozygotes but less severe than in Mitf^mi homozygotes (J:89821)

osteosclerosis ( J:30149 )

• at P37, sclerotic lesions are observed at the proximal end of the humerus and tibias unlike in wild-type mice

• mice exhibit sclerotic lesions at the costochondral junction and at the metaphysis of the vertebrae unlike in wild-type mice

• at 3 to 4 months, mice exhibit sclerotic lesions in the metaphyseal areas that are less obvious than at P37

• mice develop osteopetrotic lesions that improve with age

abnormal epiphyseal plate morphology ( J:30149 )

• mice exhibit degeneration in the growth plate

abnormal long bone epiphyseal plate morphology ( J:30149 )

• at P37, slight lesions are found in the long bone epiphyseal plate

• mice exhibit an increase in the length of growth plate length at the costochondral junction at P1 that decreases with age

increased width of hypertrophic chondrocyte zone ( J:30149 )

vision/eye

decreased eye pigmentation ( J:13426 , J:30149 )

microphthalmia ( J:13426 , J:89821 )

• in some mice (J:13426)

eyelids fail to open ( J:13426 )

anophthalmia ( J:13426 )

• in some mice

pigmentation

absent coat pigmentation ( J:13426 , J:30149 , J:89821 )

• fur is white (J:13426)

decreased eye pigmentation ( J:13426 , J:30149 )

craniofacial

abnormal incisor morphology ( J:13426 )

• incisors are poorly formed if they erupt

failure of tooth eruption ( J:13426 , J:89821 )

• often (J:13426)

• incisors fail to erupt (J:89821)

hematopoietic system

abnormal osteoclast morphology ( J:30149 )

• increased size at P1 but not at P37 and 3 to 8 months

decreased osteoclast cell number ( J:30149 )

• at P37

increased osteoclast cell number ( J:30149 )

• at P1

abnormal osteoclast physiology ( J:30149 )

• TRAP activity is decreased at P37 but not at 3 to 8 months

immune system

abnormal osteoclast morphology ( J:30149 )

• increased size at P1 but not at P37 and 3 to 8 months

decreased osteoclast cell number ( J:30149 )

• at P37

increased osteoclast cell number ( J:30149 )

• at P1

abnormal osteoclast physiology ( J:30149 )

• TRAP activity is decreased at P37 but not at 3 to 8 months

integument

absent coat pigmentation ( J:13426 , J:30149 , J:89821 )

• fur is white (J:13426)

growth/size/body

abnormal incisor morphology ( J:13426 )

• incisors are poorly formed if they erupt

failure of tooth eruption ( J:13426 , J:89821 )

• often (J:13426)

• incisors fail to erupt (J:89821)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
osteopetrosis		DOID:13533	OMIM:PS259700 OMIM:PS607634	J:30149