Phenotypes Associated with This Genotype

Genotype
MGI:3758717

• Allelic Composition: Gusb^mps/Gusb^mps
• Genetic Background: B6.C-H2-K^bm1/ByBir-Gusb^mps/J

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

mortality/aging

premature death ( J:9705 )

• males live an average of 170 days and females an average of 141 days; only 10 live longer than 241 days

growth/size/body

small nasal bone ( J:9705 )

• nasal bones are reduced in size, resulting in a pug-nosed appearance

short snout ( J:9705 )

• pug-nosed appearance

disproportionate dwarf ( J:9705 )

craniofacial

small nasal bone ( J:9705 )

• nasal bones are reduced in size, resulting in a pug-nosed appearance

short snout ( J:9705 )

• pug-nosed appearance

cellular

abnormal lysosome morphology ( J:9705 )

• vacuolar storage in many tissues (lysosomal storage disorder)

endocrine/exocrine glands

abnormal lactation ( J:9705 )

♀ • females exhibit insufficient lactation to nurture pups

limbs/digits/tail

short limbs ( J:9705 )

• shorter, stubby limbs

short tail ( J:9705 )

thick tail ( J:9705 )

reproductive system

male infertility ( J:9705 )

♂ • males are sterile, however gonadal and reproductive tract morphology and sperm numbers, morphology, and motility appear normal

skeleton

abnormal skeleton morphology ( J:9705 )

• severe skeletal deformities

small nasal bone ( J:9705 )

• nasal bones are reduced in size, resulting in a pug-nosed appearance

integument

abnormal lactation ( J:9705 )

♀ • females exhibit insufficient lactation to nurture pups

respiratory system

small nasal bone ( J:9705 )

• nasal bones are reduced in size, resulting in a pug-nosed appearance

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Sly syndrome		DOID:12803	OMIM:253220	J:9705