Phenotypes associated with this allele

• Allele Symbol: Hexa^tm1Rlp
• Allele Name: targeted mutation 1, Richard L Proia
• Allele ID: MGI:1857181
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hexa^tm1Rlp/Hexa^tm1Rlp	involves: 129S4/SvJae * C57BL/6	MGI:2177433
cx2	Hexa^tm1Rlp/Hexa^tm1Rlp Hexb^tm1Rlp/Hexb^tm1Rlp	involves: 129S4/SvJae * C57BL/6	MGI:2177551

Genotype
MGI:2177433

hm1

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

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

nervous system

abnormal brain morphology ( J:21008 )

• accumulation of G_M2 gangliosides levels reach 15% of total gangliosides

• levels reach 15% of total gangliosides

abnormal neuron morphology ( J:21008 )

• number of storage neurons with membranous cytoplasmic bodies increases with age

• distribution of storage neurons found in cerebral cortex, piriform and entorhinal cortices, CA3, amygdala, mammillary bodies, septal nuclei, and nuclei in the hypothalamus

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Tay-Sachs disease		DOID:3320	OMIM:272800	J:21008

Genotype
MGI:2177551

cx2

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

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