Phenotypes Associated with This Genotype

Genotype
MGI:2177551

• Allelic Composition: Hexa^tm1Rlp/Hexa^tm1Rlp; Hexb^tm1Rlp/Hexb^tm1Rlp
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

mortality/aging

premature death ( J:36305 )

• life span of 1-4 months

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:36305 )

• decline in motor functions begins before 3 months of age

impaired coordination ( J:36305 )

• impaired performance in a rotarod test is significantly greater than in either singly homozygous mouse

• poor performance in a "wire hang" test

decreased vertical activity ( J:36305 )

decreased locomotor activity ( J:36305 )

• decreased horizontal activity

sporadic seizures ( J:36305 )

nervous system

abnormal nervous system morphology ( J:36305 )

abnormal CNS glial cell morphology ( J:41920 )

• vacuolated macrophage found throughout the central nervous system

abnormal neuron morphology ( J:36305 )

• swollen cell bodies in all neurons of the brain, trigeminal ganglia, and dorsal root ganglia

• storage cells in addition to neurons found througout the central nervous system and peripheral nerves

abnormal nervous system physiology ( J:41920 )

sporadic seizures ( J:36305 )

abnormal myelination ( J:41920 )

• hypomyelination of the corpus callosum was seen with some myelination seen in the posterior third

• more moderate mypomyelination seen in the cerebellar white matter, brain stem and spinal cord

homeostasis/metabolism

abnormal urine homeostasis ( J:36305 )

• elevated levels of some monosaccharides in urine

increased urine glycosaminoglycan level ( J:36305 )

• glycosaminoglycan fragments in urine are elevated 50-fold

craniofacial

abnormal cranium morphology ( J:36305 , J:41920 )

• chalky white, unusually thickened and brittle by 4 to 4.5 months of age (J:41920)

frontal bossing ( J:36305 )

• frontal bossing of the skull

abnormal mandible morphology ( J:36305 )

• abnormal jaw shape

broad snout ( J:36305 )

• broadened snout

shortened head ( J:36305 )

skeleton

decreased length of long bones ( J:36305 )

• shortened long bones

increased diameter of long bones ( J:36305 )

• thickened long bones

abnormal axial skeleton morphology ( J:36305 )

abnormal cranium morphology ( J:36305 , J:41920 )

• chalky white, unusually thickened and brittle by 4 to 4.5 months of age (J:41920)

frontal bossing ( J:36305 )

• frontal bossing of the skull

abnormal mandible morphology ( J:36305 )

• abnormal jaw shape

abnormal rib morphology ( J:41920 )

• articular cartilage of ribs with enlarged and vacuolated chondrocytes

wide ribs ( J:36305 )

• broad ribs

abnormal thoracic cage shape ( J:36305 )

• abnormally shaped rib cage

kyphosis ( J:36305 )

abnormal vertebrae morphology ( J:41920 )

• articular cartilage of vertebrae with enlarged vacuolated chondrocyte

abnormal trabecular bone morphology ( J:41920 )

• boney trabeculae are thickened and irregular

vision/eye

abnormal eye morphology ( J:41920 )

• vacuolated macrophage found in the eye

cornea opacity ( J:36305 )

hearing/vestibular/ear

deafness ( J:36305 )

• unresponsive to sharp noises

growth/size/body

frontal bossing ( J:36305 )

• frontal bossing of the skull

broad snout ( J:36305 )

• broadened snout

shortened head ( J:36305 )

postnatal growth retardation ( J:36305 )

• indistinguishable at birth but smaller in size by 4-5 weeks

reproductive system

infertility ( J:36305 )

• do not breed successfully

renal/urinary system

abnormal urine homeostasis ( J:36305 )

• elevated levels of some monosaccharides in urine

increased urine glycosaminoglycan level ( J:36305 )

• glycosaminoglycan fragments in urine are elevated 50-fold

limbs/digits/tail

abnormal digit morphology ( J:36305 )

camptodactyly ( J:36305 )

• feet thickened with flexion contractures of digits

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Sly syndrome		DOID:12803	OMIM:253220	J:36305