Phenotypes associated with this allele

• Allele Symbol: Gusb^mps
• Allele Name: beta glucuronidase, mucopolysaccharidosis VII
• Allele ID: MGI:1856041
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gusb^mps/Gusb^mps	B6.Cg-Gusb^mps/BrkJ	MGI:3784505
hm2	Gusb^mps/Gusb^mps	B6.C-H2-K^bm1/ByBir-Gusb^mps/J	MGI:3758717
hm3	Gusb^mps/Gusb^mps	involves: C57BL/6By	MGI:2677778
cx4	Gusb^mps/Gusb^mps Kit^W-41J/Kit^W-41J	B6(C)-Kit^W-41J Gusb^mps/BrkJ	MGI:3842194
cx5	Gusb^mps/Gusb^mps Tg(GUSB)4Sly/Tg(GUSB)4Sly	involves: C57BL/6By * C57BL/6J * LT/Sv * SJL/J	MGI:3784507

Genotype
MGI:3784505

hm1

• Allelic Composition: Gusb^mps/Gusb^mps
• Genetic Background: B6.Cg-Gusb^mps/BrkJ

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

Lysosomal storage disease is evident in Gusb^mps/Gusb^mps mice and is rescued by Tg(GUSB)4Sly/Tg(GUSB)4Sly expression

cellular

abnormal cell morphology ( J:21256 )

• elevation of hexuronic acid levels in tissues indicating glycosaminoglycan storage

abnormal lysosome morphology ( J:21256 )

• lysosomal storage disease

homeostasis/metabolism

abnormal enzyme/coenzyme level ( J:21256 )

• homozygotes exhibit an elevation of many lysosomal enzymes, including beta-hexosaminidase, beta-galactosidase, alpha-mannosidase, acid phosphatase, aryl sulfatase A, and alpha-fucosidase

renal/urinary system

abnormal renal glomerulus morphology ( J:21256 )

• visceral epithelial cells of the glomerulus are distended by enlarged lysosomes containing fine fibrillar material and small fragments of membranous debris

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Sly syndrome		DOID:12803	OMIM:253220	J:21256

Genotype
MGI:3758717

hm2

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

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

Genotype
MGI:2677778

hm3

• Allelic Composition: Gusb^mps/Gusb^mps
• Genetic Background: involves: C57BL/6By

mortality/aging

premature death ( J:13923 )

• death between 150 and 200 days

adipose tissue

decreased white adipose tissue amount ( J:13923 )

• absent, but normal brown fat amount

craniofacial

short snout ( J:13923 )

endocrine/exocrine glands

abnormal lactation ( J:13923 )

♀ • inadequate lactation to nurture pups

growth/size/body

short snout ( J:13923 )

decreased body length ( J:13923 )

disproportionate dwarf ( J:13923 )

• subtle

homeostasis/metabolism

decreased circulating cholesterol level ( J:13923 )

• compared to littermate controls

increased urine glycosaminoglycan level ( J:87155 )

• increase in urinary glycosaminoglycan levels

limbs/digits/tail

short limbs ( J:13923 )

short tail ( J:13923 )

reproductive system

male infertility ( J:13923 )

♂ • sterility not due to reproductive or gonadal tract dysmorphology or to sperm numbers, morphology, or motility

skeleton

abnormal skeleton morphology ( J:13923 )

• mutant bones shorter and thicker than littermate controls, but contain same amount of mineralization

renal/urinary system

increased urine glycosaminoglycan level ( J:87155 )

• increase in urinary glycosaminoglycan levels

integument

abnormal lactation ( J:13923 )

♀ • inadequate lactation to nurture pups

Genotype
MGI:3842194

cx4

• Allelic Composition: Gusb^mps/Gusb^mps; Kit^W-41J/Kit^W-41J
• Genetic Background: B6(C)-Kit^W-41J Gusb^mps/BrkJ

mortality/aging

premature death ( J:58272 )

• average life span is approximately 26 weeks

hematopoietic system

decreased hematopoietic stem cell number ( J:58272 )

• severe deficiency of hematopoietic stem cells

cellular

abnormal lysosome morphology ( J:58272 )

• extensive lysosomal storage, evident histologically as large cleared foamy cells, in the liver, kidney, and spleen

Genotype
MGI:3784507

cx5

• Allelic Composition: Gusb^mps/Gusb^mps; Tg(GUSB)4Sly/Tg(GUSB)4Sly
• Genetic Background: involves: C57BL/6By * C57BL/6J * LT/Sv * SJL/J

Lysosomal storage disease is evident in Gusb^mps/Gusb^mps mice and is rescued by Tg(GUSB)4Sly/Tg(GUSB)4Sly expression

normal phenotype

no abnormal phenotype detected ( J:21256 )

• mutant mice appear phenotypically normal; transgene expression rescues the lysosomal enzyme elevation, glycosaminoglycan storage, dwarfism, abnormal gait, limited joint mobility, skeletal deformities, and paucity of adipose tissue that are seen in Gusb homozygotes