Phenotypes Associated with This Genotype

Genotype
MGI:3522109

• Allelic Composition: Ap3b1^tm1Sms/Ap3b1^tm1Sms
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

pigmentation

diluted coat color ( J:66256 )

• all homozygous mutant mice display a very diluted coat color relative to wild-type mice

• mutant hair shafts completely lack pigmentation from the roots until close to the tip

abnormal eye pigmentation ( J:66256 )

• homozygotes develop ocular pigmentation gradually after birth

abnormal melanosome morphology ( J:66256 )

• cultured melanocytes contain very few pigment granules, suggesting impaired melanosome biogenesis

behavior/neurological

behavior/neurological phenotype ( J:66256 )

N • homozygotes exhibit no neurological or balance abnormalities

cellular

abnormal lysosome morphology ( J:66256 )

• also, adult melanocytes show mislocalization of tyrosinase to nonendosomal vesicular structures

• mutant embryonic fibroblasts display mislocalization of the lysosomal membrane glycoproteins LAMP1 and LAMP2; both proteins are detected in clusters on the cell surface

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:66256 )

N • homozygotes display no inner ear deficits

homeostasis/metabolism

increased bleeding time ( J:66256 )

• all homozygotes exhibit prolonged bleeding times relative to wild-type mice

abnormal mineral homeostasis ( J:66256 )

• mutant embryonic fibroblasts lack vesicular zinc, suggesting impaired trafficking of zinc transporters

vision/eye

abnormal eye pigmentation ( J:66256 )

• homozygotes develop ocular pigmentation gradually after birth

integument

diluted coat color ( J:66256 )

• all homozygous mutant mice display a very diluted coat color relative to wild-type mice

• mutant hair shafts completely lack pigmentation from the roots until close to the tip