Phenotypes associated with this allele

• Allele Symbol: Pcdhg^tm1.1Tman
• Allele Name: targeted mutation 1.1, Tom Maniatis
• Allele ID: MGI:5440844
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pcdhg^tm1.1Tman/Pcdhg^tm1.1Tman	involves: 129S4/SvJae * C57BL/6	MGI:5440873
cx2	Bax^tm1Sjk/Bax^tm1Sjk Pcdhg^tm1.1Tman/Pcdhg^tm1.1Tman	involves: 129S4/SvJae * 129X1/SvJ * C57BL/6	MGI:5440874

Genotype
MGI:5440873

hm1

• Allelic Composition: Pcdhg^tm1.1Tman/Pcdhg^tm1.1Tman
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:188341 )

• during the first day after birth

behavior/neurological

abnormal reflex ( J:188341 )

• compromised

tremors ( J:188341 )

• limb tremors

hunched posture ( J:188341 )

abnormal voluntary movement ( J:188341 )

• compromised

nervous system

increased neuron apoptosis ( J:188341 )

• in the spinal cord

microgliosis ( J:188341 )

astrocytosis ( J:188341 )

neuron degeneration ( J:188341 )

• mice exhibit severe neuronal loss in the ventral horn (70%), deep dorsal horn (50%) and superficial dorsal horn (30%) in the spinal cord compared with wild-type mice

muscle

muscle hypertonia ( J:188341 )

cellular

increased neuron apoptosis ( J:188341 )

• in the spinal cord

embryo

umbilical hernia ( J:188341 )

hematopoietic system

microgliosis ( J:188341 )

immune system

microgliosis ( J:188341 )

Genotype
MGI:5440874

cx2

• Allelic Composition: Bax^tm1Sjk/Bax^tm1Sjk; Pcdhg^tm1.1Tman/Pcdhg^tm1.1Tman
• Genetic Background: involves: 129S4/SvJae * 129X1/SvJ * C57BL/6

mortality/aging

neonatal lethality, incomplete penetrance ( J:188341 )

• some mice die at P0

• however, neonatal lethality is partially rescued

behavior/neurological

ataxia ( J:188341 )

• persistent in surviving mice

weakness ( J:188341 )

growth/size/body

decreased body size ( J:188341 )