Phenotypes Associated with This Genotype

Genotype
MGI:3849442

• Allelic Composition: Arsb^m1J/Arsb^m1J
• Genetic Background: C57BL/6J-Arsb^m1J/GrsrJ

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

Arsb^m1J/Arsb^m1J mice (left) exhibit a shortened snout, wide-set eyes and shortened limbs

behavior/neurological

abnormal gait ( J:149960 )

craniofacial

short maxilla ( J:149960 )

short snout ( J:149960 )

vision/eye

ocular hypertelorism ( J:149960 )

limbs/digits/tail

abnormal digit morphology ( J:149960 )

• thicker digits

short limbs ( J:149960 )

• shortened limbs become more noticeable with age

thick tail ( J:149960 )

adipose tissue

decreased percent body fat/body weight ( J:149960 )

growth/size/body

short snout ( J:149960 )

decreased body size ( J:149960 )

skeleton

short maxilla ( J:149960 )

increased bone mineral density ( J:149960 )

• greater whole body bone mineral density

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:149960 )

• ABR indicative of severe hearing loss

reproductive system

reduced fertility ( J:149960 )

• although both females and males reproduce, small litters and poor breeding have occurred

decreased litter size ( J:149960 )

muscle

skeletal muscle degeneration ( J:149960 )

• focal muscle degeneration is found in an 8 month old

nervous system

peripheral nervous system degeneration ( J:149960 )

• an 8 month old homozygote shows peripheral nerve degeneration with macrophage infiltration and a 14 month old shows peripheral nerve degeneration with spinal arthritis and vacuoles in the connective tissue around the spine

cellular

abnormal lysosome physiology ( J:149960 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mucopolysaccharidosis VI		DOID:12800	OMIM:253200	J:149960