Phenotypes associated with this allele

• Allele Symbol: Borcs7^tm1Bhk
• Allele Name: targeted mutation 1, Beverly H Koller
• Allele ID: MGI:6280949
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Borcs7^tm1Bhk/Borcs7^tm1Bhk	129S6/SvEvTac-Borcs7^tm1Bhk	MGI:6302767
ht2	Borcs7^Q87X/Borcs7^tm1Bhk	involves: 129S6/SvEvTac * C57BL/6 * DBA/2	MGI:6302769

Genotype
MGI:6302767

hm1

• Allelic Composition: Borcs7^tm1Bhk/Borcs7^tm1Bhk
• Genetic Background: 129S6/SvEvTac-Borcs7^tm1Bhk

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

mortality/aging

neonatal lethality, complete penetrance ( J:271219 )

• all mice die within 12 hours of birth as pups fail to feed and are removed from the nest by dams

cellular

abnormal lysosome morphology ( J:271219 )

• the number of lysosomes in the axons of neurons is low

• lysosomes in cultured cortical neurons cluster primarily in the soma, indicating altered neuronal distribution of lysosomes

nervous system

abnormal axonal transport ( J:271219 )

• neurons show decreased antero-grade velocity of LAMP1-GFP-labeled lysosomes compared to controls

• neurons show reduction in both anterograde and retrograde lysosomal run length

• neurons show a small, but significant, decrease in synaptic vesicle anterograde run length

Genotype
MGI:6302769

ht2

• Allelic Composition: Borcs7^Q87X/Borcs7^tm1Bhk
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * DBA/2

behavior/neurological

impaired coordination ( J:271219 )

• mice exhibit a decreased latency to fall from the accelerating rotarod