Phenotypes associated with this allele

• Allele Symbol: Ap3b1^tm1Sms
• Allele Name: targeted mutation 1, Suzanne L Mansour
• Allele ID: MGI:2684535
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ap3b1^tm1Sms/Ap3b1^tm1Sms	B6.129-Ap3b1^tm1Sms	MGI:3522640
hm2	Ap3b1^tm1Sms/Ap3b1^tm1Sms	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3522109

Genotype
MGI:3522640

hm1

• Allelic Composition: Ap3b1^tm1Sms/Ap3b1^tm1Sms
• Genetic Background: B6.129-Ap3b1^tm1Sms

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

pigmentation

diluted coat color ( J:94942 )

• homozygotes have a pale gray coat

hypopigmentation ( J:94942 )

• ear and tail pigmentation is reduced

behavior/neurological

behavior/neurological phenotype ( J:94942 )

N • no behavioral abnormalities are detected

nervous system

abnormal nervous system physiology ( J:94942 )

• a 12% increase in synaptic zinc levels is seen in the cortex and hippocampus

integument

diluted coat color ( J:94942 )

• homozygotes have a pale gray coat

Genotype
MGI:3522109

hm2

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

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 )

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

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

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