Phenotypes associated with this allele

• Allele Symbol: Fign^tm1Frk
• Allele Name: targeted mutation 1, Wayne N Frankel
• Allele ID: MGI:1926595
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fign^tm1Frk/Fign^tm1Frk	B6.129-Fign^tm1Frk/Frk	MGI:3580460
ht2	Fign^tm1Frk/Fign^fi	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3842607

Genotype
MGI:3580460

hm1

• Allelic Composition: Fign^tm1Frk/Fign^tm1Frk
• Genetic Background: B6.129-Fign^tm1Frk/Frk

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:64964 )

• of 9 homozygotes born only 3 survive to adulthood

prenatal lethality, incomplete penetrance ( J:64964 )

• of 106 pups from heterozygous intercrosses only 9 are homozygotes

behavior/neurological

head shaking ( J:64964 )

• all of the 3 homozygotes that survived to adulthood display head shaking, but not the circling that is found in fidget homozygotes

vision/eye

microphthalmia ( J:64964 )

• 100% of homozygotes have at least one small eye

Genotype
MGI:3842607

ht2

• Allelic Composition: Fign^tm1Frk/Fign^fi
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

behavior/neurological

head shaking ( J:64964 )

• 7 of 14 compound heterozygotes show side-to-side head shaking, with the phenotype being less pronounced and more variable than in fidget homozygotes

hearing/vestibular/ear

abnormal semicircular canal morphology ( J:64964 )

• the horizontal semicircular canal is either missing or reduced in all compound heterozygotes

absent semicircular canals ( J:64964 )

vision/eye

microphthalmia ( J:64964 )

• 5 of 14 compound heterozygotes have at least one small eye