Phenotypes Associated with This Genotype

Genotype
MGI:5518826

• Allelic Composition: Is(In8B2-8B3.1;6C1)1Tshir/0
• Genetic Background: involves: A/WySn * C57BL/10 * M. m. molossinus * NZB

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

craniofacial

abnormal craniofacial morphology ( J:198239 )

• craniofacial deformities

growth/size/body

postnatal growth retardation ( J:198239 )

limbs/digits/tail

abnormal pollex morphology ( J:198239 )

• 89% of mice exhibit first digit deformities, although absence of the first digit is not seen

brachydactyly ( J:198239 )

• of first digit

clinodactyly ( J:198239 )

• of first digit

polydactyly ( J:27442 )

• duplication of the first digit varies from thickening of the diphalangeal digit to branching of triphalangeal extra digits which results in a total of 7 toes

preaxial polydactyly ( J:198239 )

• of the first digit

syndactyly ( J:198239 )

• of first digit

triphalangia ( J:27442 )

• triphalangeal extra digit located on the preaxial side of the first digit of the hindlimbs

renal/urinary system

renal/urinary system phenotype ( J:198239 )

N • no renal abnormalities

skeleton

scoliosis ( J:198239 )

abnormal cervical vertebrae morphology ( J:198239 )

• cervical vertebra defects

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
chromosomal duplication syndrome		DOID:0060429		J:198239