Phenotypes associated with this allele

• Allele Symbol: Six5^tm1Tap
• Allele Name: targeted mutation 1, Steven J Tapscott
• Allele ID: MGI:2148692
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Six5^tm1Tap/Six5^tm1Tap	involves: 129/Sv * C57BL/6	MGI:2174894
ht2	Six5^tm1Tap/Six5^+	involves: 129/Sv * C57BL/6	MGI:3582232

Genotype
MGI:2174894

hm1

• Allelic Composition: Six5^tm1Tap/Six5^tm1Tap
• Genetic Background: involves: 129/Sv * C57BL/6

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

vision/eye

cataract ( J:61882 )

• incomplete penetrance; in 5-7 and 8-10 month animals, homozygous mutants had a higher grade of lenticular opacities compared with their control littermates

• cataracts did not progress to full opacity during the study period

muscle

muscle phenotype ( J:61882 )

N • no pathological changes consistent with myotonic dystrophy were observed in 3 month old mice

N • electrophysiological experiments demonstrated that skeletal muscle exhibited no myotonia at 3 and 10 months of age

N • small conductance Ca⁺⁺-activated K⁺ channel activity was not detected

Genotype
MGI:3582232

ht2

• Allelic Composition: Six5^tm1Tap/Six5⁺
• Genetic Background: involves: 129/Sv * C57BL/6

vision/eye

cataract ( J:61882 )

• higher-grade opacities compared with control littermates

• increasing severity with age, but the difference from the control group was not statistically significant at the ages studied