Phenotypes associated with this allele

• Allele Symbol: Snap25^tm2Mcw
• Allele Name: targeted mutation 2, Michael C Wilson
• Allele ID: MGI:3511662
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Snap25^tm2Mcw/Snap25^tm2Mcw	involves: C57BL/6J	MGI:3511686

Genotype
MGI:3511686

hm1

• Allelic Composition: Snap25^tm2Mcw/Snap25^tm2Mcw
• Genetic Background: involves: C57BL/6J

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

mortality/aging

premature death ( J:94005 )

• 17 out of 25 mutants died before P60, with a median survival of 27 days after birth

postnatal lethality, incomplete penetrance ( J:94005 )

• 8 out of 25 mutants died between between P14 and weaning at P21

behavior/neurological

akinesia ( J:94005 )

• the ~30% of mutants that survived beyond P50-60 lacked spontaneous activity

myoclonus ( J:94005 )

• indications of forebrain seizures included splayed hindlimbs and vocalization before displaying straub tail

growth/size/body

decreased body weight ( J:94005 )

• at 3-4 weeks after birth, mutants were smaller with 72-82% of the body weight of heterozygous or wild-type littermates

muscle

myoclonus ( J:94005 )

• indications of forebrain seizures included splayed hindlimbs and vocalization before displaying straub tail

reproductive system

infertility ( J:94005 )

• both males and females are infertile

nervous system

myoclonus ( J:94005 )

• indications of forebrain seizures included splayed hindlimbs and vocalization before displaying straub tail

enhanced paired-pulse facilitation ( J:94005 )

• ncreased facilitation of glutaminergic transmission for 50-100 msec after an initial stimulus in CA1 hipppocampal synapses

integument

disheveled coat ( J:94005 )

• the ~30% of mutants that survived beyond P50-60 had a disheveled appearance