Phenotypes Associated with This Genotype

Genotype
MGI:5296959

• Allelic Composition: Aebp2^{Gt(BC0681)Wtsi}/Aebp2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

White spotting on the tail and toes of Aebp2^{Gt(BC0681)Wtsi}/Aebp2⁺ mice

digestive/alimentary system

aganglionic megacolon ( J:177673 )

• enlarged, green colored colon lacking neural crest derived ganglia

• mice show a 50-70% reduction in the density of ganglion cells in the section between the anus and the cecum

abnormal defecation ( J:177673 )

• seem to have difficulty passing feces

abnormal intestinal peristalsis ( J:177673 )

• colonic aperistalsis

growth/size/body

distended abdomen ( J:177673 )

• tend to have a pot shaped belly

pigmentation

non-pigmented tail tip ( J:177673 )

• white spotting at the tail tip

• length of the spot is increased in heterozygotes produced from crosses of heterozygotes compared to crosses of heterozygotes with wild-type mice

hypopigmentation ( J:177673 )

• of the feet and tail

• about 60% of heterozygotes show white toes on the hind limbs

behavior/neurological

decreased startle reflex ( J:177673 )

• about 70% of mice lack a brisk acoustic response

integument

non-pigmented tail tip ( J:177673 )

• white spotting at the tail tip

• length of the spot is increased in heterozygotes produced from crosses of heterozygotes compared to crosses of heterozygotes with wild-type mice

limbs/digits/tail

non-pigmented tail tip ( J:177673 )

• white spotting at the tail tip

• length of the spot is increased in heterozygotes produced from crosses of heterozygotes compared to crosses of heterozygotes with wild-type mice

muscle

abnormal intestinal peristalsis ( J:177673 )

• colonic aperistalsis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hirschsprung's disease		DOID:10487	OMIM:600156 OMIM:606874 OMIM:606875 OMIM:608462 OMIM:611644	J:177673
Waardenburg syndrome		DOID:9258	OMIM:PS193500	J:177673