Phenotypes associated with this allele

• Allele Symbol: Pcdhg^em41Rwb
• Allele Name: endonuclease-mediated mutation 41, Robert W Burgess
• Allele ID: MGI:6284353
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pcdhg^em41Rwb/Pcdhg^em41Rwb	C57BL/6J-Pcdhg^em41Rwb/Rwb	MGI:6509350

Genotype
MGI:6509350

hm1

• Allelic Composition: Pcdhg^em41Rwb/Pcdhg^em41Rwb
• Genetic Background: C57BL/6J-Pcdhg^em41Rwb/Rwb

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

behavior/neurological

impaired righting response ( J:285314 )

tremors ( J:285314 )

hunched posture ( J:285314 )

cellular

increased spinal cord apoptosis ( J:285314 )

hematopoietic system

microgliosis ( J:285314 )

nervous system

increased spinal cord apoptosis ( J:285314 )

microgliosis ( J:285314 )

abnormal spinal cord morphology ( J:285314 )

abnormal spinal cord interneuron morphology ( J:285314 )

abnormal spinal cord ventral horn morphology ( J:285314 )

decreased spinal cord size ( J:285314 )

• at P0 the spinal cord is grossly smaller than normal, with significant neuronal loss, reactive gliosis, increased cleaved caspase 3 indicative of apoptosis, with significant loss of FOXP2 and PAX2 positive ventral interneurons, and clumping of parvalbumin-positive Ia afferent axon terminals around motor neurons in the ventral horn.

immune system

microgliosis ( J:285314 )

mortality/aging

neonatal lethality, complete penetrance ( J:285314 )

• As with mice null for the whole Pcdhg locus, these mice lacking only exon C4 display complete perinatal lethality with tremor, hunched posture and inability to right, showing that this exon is essential for normal protein function.