Phenotypes associated with this allele

• Allele Symbol: sy
• Allele Name: shaker with syndactylism
• Allele ID: MGI:1856182
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	sy/sy	B6C3Fe-a/a	MGI:2451235
hm2	sy/sy	Not Specified	MGI:2174750
cx3	Slc12a2^sy-ns/sy	involves: C57BL/6 * MK/ReJ	MGI:3698318

Genotype
MGI:2451235

hm1

• Allelic Composition: sy/sy
• Genetic Background: B6C3Fe-a/a

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

limbs/digits/tail

syndactyly ( J:68881 )

• variable penetrance, usually of digits 2 and 3 or 3 and 4, more rarely 2, 3 and 4; fusion of 2, 3 and 4 is more frequently seen on the hind paw than the fore paws

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	distal arthrogryposis	DOID:0050646	OMIM:PS108120	J:68881

Genotype
MGI:2174750

hm2

• Allelic Composition: sy/sy
• Genetic Background: Not Specified

mortality/aging

postnatal lethality, complete penetrance ( J:208 )

• within 1 month of birth

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:208 )

head bobbing ( J:208 )

circling ( J:208 )

hearing/vestibular/ear

abnormal ear morphology ( J:13002 )

abnormal semicircular canal morphology ( J:13002 )

• thin semicircular canals

abnormal membranous labyrinth morphology ( J:13002 )

• development of excessive mesenchymal tissue followed by collapse of endolymphatic space and degeneration of membraneous labyrinth

abnormal otic capsule morphology ( J:13002 )

abnormal hearing physiology ( J:13002 )

deafness ( J:208 )

limbs/digits/tail

abnormal digit morphology ( J:208 )

syndactyly ( J:208 )

• variable penetrance

• usually of digits 2 and 3 or 3 and 4

skeleton

decreased diameter of long bones ( J:12945 )

• thin long bones

abnormal scapula morphology ( J:12945 )

abnormal axial skeleton morphology ( J:12945 )

abnormal sacral vertebrae morphology ( J:12945 )

decreased bone mineral density ( J:12945 )

abnormal skeleton development ( J:12945 )

synostosis ( J:12945 )

• synostosis of phalanges

• variable penetrance

Genotype
MGI:3698318

cx3

• Allelic Composition: Slc12a2^sy-ns/sy
• Genetic Background: involves: C57BL/6 * MK/ReJ

behavior/neurological

head bobbing ( J:50578 )

circling ( J:50578 )

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:50578 )

• no discernible auditory brainstem responses (ABR) to maximum output stimuli at 99 dB

deafness ( J:50578 )

• profoundly deaf at 2-3 month of age