Phenotypes associated with this allele

• Allele Symbol: Pcdhg^tm2Xzw
• Allele Name: targeted mutation 2, Xiaozhong Wang
• Allele ID: MGI:3821773
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Pcdhg^tm2Xzw/Pcdhg^tm2Xzw	involves: 129S7/SvEvBrd * C57BL/6 * CD-1	MGI:5705343
cn2	Bax^tm1Sjk/Bax^tm1Sjk Pcdhg^tm2Xzw/Pcdhg^tm2Xzw Tg(Chx10-EGFP/cre,-ALPP)2Clc/0	involves: 129S7/SvEvBrd * 129X1/SvJ * C57BL/6 * SJL	MGI:3821864
cn3	Pcdhg^tm2Xzw/Pcdhg^tm2Xzw Tg(Chx10-EGFP/cre,-ALPP)2Clc/0	involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6J * SJL	MGI:3821861
cn4	Pcdhg^tm2Xzw/Pcdhg^tm2Xzw Robo2^tm1Rilm/Robo2^tm1Rilm	involves: 129S7/SvEvBrd * C57BL/6 * CD-1	MGI:5705344
cn5	Pcdhg^em5Rwb/Pcdhg^tm2Xzw Tg(Pax6-cre,GFP)2Pgr/0	involves: 129S7/SvEvBrd * C57BL/6J	MGI:6509336
cn6	Pcdhg^tm2Xzw/Pcdhg^tm2Xzw Tg(Pax6-cre,GFP)2Pgr/0	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3821863

Genotype
MGI:5705343

cn1

• Allelic Composition: Pcdhg^tm2Xzw/Pcdhg^tm2Xzw
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CD-1

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

nervous system

abnormal Purkinje cell dendrite morphology ( J:221288 )

• brain injections of rAAV8 virus expressing cre

• 6 fold increase in overlaps of Purkinji Cell dendritic branches

Genotype
MGI:3821864

cn2

• Allelic Composition: Bax^tm1Sjk/Bax^tm1Sjk; Pcdhg^tm2Xzw/Pcdhg^tm2Xzw; Tg(Chx10-EGFP/cre,-ALPP)2Clc/0
• Genetic Background: involves: 129S7/SvEvBrd * 129X1/SvJ * C57BL/6 * SJL

vision/eye

vision/eye phenotype ( J:142186 )

N • mice exhibit normal inner nuclear, inner plexiform and ganglion cell layer thickness and numbers of bipolar cells

Genotype
MGI:3821861

cn3

• Allelic Composition: Pcdhg^tm2Xzw/Pcdhg^tm2Xzw; Tg(Chx10-EGFP/cre,-ALPP)2Clc/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6J * SJL

vision/eye

increased retina apoptosis ( J:142186 )

• retinal apoptosis during the first two weeks after birth is increased compared to in wild-type mice

• increased apoptosis is observed in the neuroblast and ganglion cell layers at P0 and is confined to the inner nuclear layer at P7

thin retina inner nuclear layer ( J:142186 )

• by P14, 40% thinner than in wild-type mice

thin retina inner plexiform layer ( J:142186 )

• by P14, 40% thinner than in wild-type mice

abnormal eye electrophysiology ( J:142186 )

• retinal ganglion cells fire at a lower rate in response to flicker stimuli and the time course of the light response is lower than in wild-type mice

cellular

increased retina apoptosis ( J:142186 )

• retinal apoptosis during the first two weeks after birth is increased compared to in wild-type mice

• increased apoptosis is observed in the neuroblast and ganglion cell layers at P0 and is confined to the inner nuclear layer at P7

Genotype
MGI:5705344

cn4

• Allelic Composition: Pcdhg^tm2Xzw/Pcdhg^tm2Xzw; Robo2^tm1Rilm/Robo2^tm1Rilm
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CD-1

nervous system

abnormal Purkinje cell dendrite morphology ( J:221288 )

• brain injections of rAAV8 virus expressing cre

• higher level of dendritic branch overlap than for either mutant allele alone

behavior/neurological

behavior/neurological phenotype ( J:221288 )

N • no performance abnormalities in a dowel rod test

abnormal gait ( J:221288 )

Genotype
MGI:6509336

cn5

• 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 )

Genotype
MGI:3821863

cn6

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

vision/eye

vision/eye phenotype ( J:142186 )

N • despite the reduction in several retinal cell types, the numbers of horizontal cells, photoreceptors and synapses in the inner plexiform layer are normal

abnormal Muller cell morphology ( J:142186 )

• the numbers of Muller glial cells is decreased 20% compared to in wild-type mice

decreased amacrine cell number ( J:142186 )

• the numbers of bipolar, amacrine and retinal ganglion cells are decreased 45% to 65% compared to in wild-type mice

• the number of Pax6-amacrine cells in the central retina is reduced 58% compared to in wild-type mice

decreased retina ganglion cell number ( J:142186 )

• the numbers of bipolar, amacrine and retinal ganglion cells are decreased 45% to 65% compared to in wild-type mice

• mice exhibit a 15% loss of Pou4f1+ retinal ganglion cells from the central retina compared to in wild-type mice

abnormal retina bipolar cell morphology ( J:142186 )

• the numbers of bipolar, amacrine and retinal ganglion cells are decreased 45% to 65% compared to in wild-type mice

nervous system

abnormal Muller cell morphology ( J:142186 )

• the numbers of Muller glial cells is decreased 20% compared to in wild-type mice

decreased amacrine cell number ( J:142186 )

• the numbers of bipolar, amacrine and retinal ganglion cells are decreased 45% to 65% compared to in wild-type mice

• the number of Pax6-amacrine cells in the central retina is reduced 58% compared to in wild-type mice

decreased retina ganglion cell number ( J:142186 )

• the numbers of bipolar, amacrine and retinal ganglion cells are decreased 45% to 65% compared to in wild-type mice

• mice exhibit a 15% loss of Pou4f1+ retinal ganglion cells from the central retina compared to in wild-type mice

abnormal retina bipolar cell morphology ( J:142186 )

• the numbers of bipolar, amacrine and retinal ganglion cells are decreased 45% to 65% compared to in wild-type mice