Phenotypes associated with this allele

• Allele Symbol: Pdzd8^{tm1b(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1b, Wellcome Trust Sanger Institute
• Allele ID: MGI:5708255
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pdzd8^tm1b(EUCOMM)Wtsi/Pdzd8^tm1b(EUCOMM)Wtsi	C57BL/6N-Pdzd8^tm1b(EUCOMM)Wtsi	MGI:6856522
hm2	Pdzd8^tm1b(EUCOMM)Wtsi/Pdzd8^tm1b(EUCOMM)Wtsi	C57BL/6N-Pdzd8^tm1b(EUCOMM)Wtsi/Wtsi	MGI:6263136
ht3	Pdzd8^tm1b(EUCOMM)Wtsi/Pdzd8^+	C57BL/6N-Pdzd8^tm1b(EUCOMM)Wtsi/Wtsi	MGI:6263135

Genotype
MGI:6856522

hm1

• Allelic Composition: Pdzd8^{tm1b(EUCOMM)Wtsi}/Pdzd8^{tm1b(EUCOMM)Wtsi}
• Genetic Background: C57BL/6N-Pdzd8^{tm1b(EUCOMM)Wtsi}

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:317428 )

• fewer than expected mice are present at weaning

nervous system

decreased brain size ( J:317428 )

• reduced absolute brain volume at 16 weeks of age

decreased corpus callosum size ( J:317428 )

• decreased relative volume

decreased superior colliculus size ( J:317428 )

• decreased relative volume

abnormal globus pallidus morphology ( J:317428 )

• decreased relative volume

small thalamus ( J:317428 )

• decreased relative volume

abnormal retrosplenial region morphology ( J:317428 )

• increased relative volume

enlarged hippocampus ( J:317428 )

• increased relative volume

enlarged olfactory bulb ( J:317428 )

• increased relative volume

enlarged cerebellum ( J:317428 )

• increased relative volume

reduced long-term potentiation ( J:317428 )

• theta burst stimulation induced

decreased paired-pulse facilitation ( J:317428 )

behavior/neurological

abnormal long-term spatial reference memory ( J:317428 )

• reduced in Barnes maze

• however, spatial learning is normal

decreased anxiety-related response ( J:317428 )

• mice exhibit reduced habituation in an open field test with more entries in the center of the arena compared with wild-type mice

• in an elevated plus maze, mice exhibit more open arm entries and head dips compared with wild-type mice

increased vertical stereotypic behavior ( J:317428 )

• spontaneous repetitive hindlimb jumping

growth/size/body

decreased body weight ( J:317428 )

• between 4 and 16 weeks of age with reduced soft tissue mass at 14 weeks of age

decreased body length ( J:317428 )

• at 14 weeks of age

postnatal growth retardation ( J:317428 )

• between 4 and 16 weeks of age

Genotype
MGI:6263136

hm2

• Allelic Composition: Pdzd8^{tm1b(EUCOMM)Wtsi}/Pdzd8^{tm1b(EUCOMM)Wtsi}
• Genetic Background: C57BL/6N-Pdzd8^{tm1b(EUCOMM)Wtsi}/Wtsi
• Cell Lines: EPD0242_4_D07

Data Sources

IMPC Data for Pdzd8

behavior/neurological

hyperactivity ( J:211773 )

IMPC - HAR

growth/size/body

increased lean body mass ( J:211773 )

♀

IMPC - HAR

hematopoietic system

increased red blood cell distribution width ( J:211773 )

IMPC - HAR

homeostasis/metabolism

increased circulating triglyceride level ( J:211773 )

♀

IMPC - HAR

increased circulating phosphate level ( J:211773 )

♀

IMPC - HAR

increased circulating amylase level ( J:211773 )

♀

IMPC - HAR

increased circulating aspartate transaminase level ( J:211773 )

IMPC - HAR

integument

abnormal vibrissa morphology ( J:211773 )

♂

IMPC - HAR

limbs/digits/tail

short tibia ( J:211773 )

IMPC - HAR

skeleton

short tibia ( J:211773 )

IMPC - HAR

Genotype
MGI:6263135

ht3

• Allelic Composition: Pdzd8^{tm1b(EUCOMM)Wtsi}/Pdzd8⁺
• Genetic Background: C57BL/6N-Pdzd8^{tm1b(EUCOMM)Wtsi}/Wtsi
• Cell Lines: EPD0242_4_D07

Data Sources

IMPC Data for Pdzd8

hematopoietic system

increased mean platelet volume ( J:211773 )

IMPC - HAR

increased large unstained cell number ( J:211773 )

♂

IMPC - HAR

homeostasis/metabolism

increased blood urea nitrogen level ( J:211773 )

IMPC - HAR

immune system

increased large unstained cell number ( J:211773 )

♂

IMPC - HAR