Phenotypes associated with this allele

• Allele Symbol: Pcdhg^em5Rwb
• Allele Name: endonuclease-mediated mutation 5, Robert W Burgess
• Allele ID: MGI:6285780
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pcdhg^em5Rwb/Pcdhg^em5Rwb	C57BL/6J-Pcdhg^em5Rwb/Rwb	MGI:6509311
cn2	Pcdhg^em5Rwb/Pcdhg^tm2Xzw Tg(Pax6-cre,GFP)2Pgr/0	involves: 129S7/SvEvBrd * C57BL/6J	MGI:6509336

Genotype
MGI:6509311

hm1

• Allelic Composition: Pcdhg^em5Rwb/Pcdhg^em5Rwb
• Genetic Background: C57BL/6J-Pcdhg^em5Rwb/Rwb

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

hematopoietic system

microgliosis ( J:285314 )

mortality/aging

neonatal lethality, complete penetrance ( J:285314 )

• all homozygotes die within hours of birth with a hunched posture, tremor and inability to right themselves, consistent with mice homozygous for a complete deletion of the Pcdhg cluster

cellular

increased spinal cord apoptosis ( J:285314 )

immune system

microgliosis ( J:285314 )

nervous system

increased spinal cord apoptosis ( J:285314 )

microgliosis ( J:285314 )

astrocytosis ( J:285314 )

abnormal spinal cord morphology ( J:285314 )

abnormal spinal cord grey matter 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 cell death, increased cleaved caspase 3 indicative of apoptosis, fewer cells primarily in the ventral spinal cord, astrocytosis, fewer FOXP2 and PAX2 positive ventral interneurons, and clumping of parvalbumin-positive Ia afferent axon terminals around their motor neuron targets in the ventral horn.

behavior/neurological

impaired righting response ( J:285314 )

tremors ( J:285314 )

hunched posture ( J:285314 )

Genotype
MGI:6509336

cn2

• Allelic Composition: Pcdhg^em5Rwb/Pcdhg^tm2Xzw; Tg(Pax6-cre,GFP)2Pgr/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

vision/eye

decreased amacrine cell number ( J:285314 )

decreased retina ganglion cell number ( J:285314 )

thin retina inner nuclear layer ( J:285314 )

thin retina inner plexiform layer ( J:285314 )

decreased total retina thickness ( J:285314 )

• At 14 days of age the inner retina is thinner than normal in both cellular and synaptic layers, but neurite stratification is not disorganized

nervous system

decreased amacrine cell number ( J:285314 )

decreased retina ganglion cell number ( J:285314 )