Phenotypes associated with this allele

• Allele Symbol: Del(18Pcdhg)1Xzw
• Allele Name: deletion, Chr 18, Xiaozhong Wang 1
• Allele ID: MGI:3623611
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Del(18Pcdhg)1Xzw/Del(18Pcdhg)1Xzw	Not Specified	MGI:3624351
cx2	Bax^tm1Sjk/Bax^tm1Sjk Del(18Pcdhg)1Xzw/Del(18Pcdhg)1Xzw	involves: 129X1/SvJ	MGI:5440876

Genotype
MGI:3624351

hm1

• Allelic Composition: Del(18Pcdhg)1Xzw/Del(18Pcdhg)1Xzw
• Genetic Background: Not Specified

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

mortality/aging

neonatal lethality, complete penetrance ( J:107735 , J:188341 )

• homozygous mice die less than 12 hours after birth (J:107735)

• no mice are recovered beyond P0 (J:188341)

nervous system

increased neuron apoptosis ( J:188341 )

• in the spinal cord

increased spinal cord apoptosis ( J:107735 )

• greater numbers of apoptotic nuclei are detected in mutant spinal cords at E18 and P0 compared with controls

microgliosis ( J:188341 )

astrocytosis ( J:188341 )

abnormal spinal cord morphology ( J:107735 )

• synaptic density is reduced in the spinal cord of mutants, most notably in the interneuron- rich intermediate gray region; excitatory synapse number is reduced by 62% compared to controls and inhibitory synapse number is decreased by 79% in mutants

abnormal spinal cord interneuron morphology ( J:107735 )

• numbers are drastically reduced in mutant spinal cords

decreased spinal cord size ( J:107735 )

• spinal cord of mutants is grossly smaller than that of controls by birth

neurodegeneration ( J:107735 )

• amount of neurodegeneration is not uniform within the spinal cord; neuronal loss is most extensive in the intermediate gray and ventral horn

• some neurodegeneration is detected at P0 in parts of the mutant brain compared to control

neuron degeneration ( J:107735 , J:188341 )

• significant loss of neuronal processes and synapses is observed in mutant spinal cords; excesses of astrocytic processes and macrophages are seen in mutant spinal cords at E18 and P0 (J:107735)

• 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 (J:188341)

behavior/neurological

abnormal suckling behavior ( J:107735 )

• homozygotes do not nurse

impaired righting response ( J:107735 )

• homozygotes do not right themselves when turned over

abnormal response to tactile stimuli ( J:107735 )

• homozygotes respond to tail pinch with weak vocalization but display no withdrawal movements

tremors ( J:107735 )

• homozygous neonates exhibit repetitive limb tremors that are coordinated bilaterally but not between fore- and hindlimbs

hunched posture ( J:107735 , J:188341 )

• homozygous neonates exhibit hunched posture (J:107735)

respiratory system

abnormal breathing pattern ( J:107735 )

• breathing of homozygous neonates is shallow and irregular

cellular

increased neuron apoptosis ( J:188341 )

• in the spinal cord

increased spinal cord apoptosis ( J:107735 )

• greater numbers of apoptotic nuclei are detected in mutant spinal cords at E18 and P0 compared with controls

embryo

umbilical hernia ( J:188341 )

hematopoietic system

microgliosis ( J:188341 )

immune system

microgliosis ( J:188341 )

muscle

muscle hypertonia ( J:188341 )

Genotype
MGI:5440876

cx2

• Allelic Composition: Bax^tm1Sjk/Bax^tm1Sjk; Del(18Pcdhg)1Xzw/Del(18Pcdhg)1Xzw
• Genetic Background: involves: 129X1/SvJ

mortality/aging

neonatal lethality, complete penetrance ( J:188341 )

• no mice are recovered beyond P0

behavior/neurological

abnormal voluntary movement ( J:188341 )

• mice lack voluntary movement

• however, mice exhibit improved neurological function

nervous system

nervous system phenotype ( J:188341 )

N • mice do not exhibit microgliosis or astrocytosis as in Del(18Pcdhg)1Xzw homozygotes