Phenotypes Associated with This Genotype

Genotype
MGI:2677961

• Allelic Composition: Slc7a11^sut/Slc7a11^sut
• Genetic Background: C3H/HeSnJ-Slc7a11^sut/J

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

pigmentation

diluted coat color ( J:14274 )

• yellow hair pigment is reduced; black pigment is unaffected

• most easily seen with agouti especially in the juvenile coat

• on nonagouti some reduction in yellow pigment can be seen in the pinna hairs only

hematopoietic system

decreased platelet serotonin level ( J:31616 )

• platelet serotonin concentration is slightly reduced; no change in adenine nucleotide concentration

homeostasis/metabolism

decreased platelet serotonin level ( J:31616 )

• platelet serotonin concentration is slightly reduced; no change in adenine nucleotide concentration

increased bleeding time ( J:31616 )

• model for mild storage pool deficiency

• mutant mice have a 3.4 fold greater bleeding time compared to sib controls

integument

diluted coat color ( J:14274 )

• yellow hair pigment is reduced; black pigment is unaffected

• most easily seen with agouti especially in the juvenile coat

• on nonagouti some reduction in yellow pigment can be seen in the pinna hairs only

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hermansky-Pudlak syndrome		DOID:3753	OMIM:PS203300	J:31616
platelet storage pool deficiency		DOID:2223	OMIM:185050	J:31616