Phenotypes associated with this allele

• Allele Symbol: Tcf20^em1Jwji
• Allele Name: endonuclease-mediated mutation 1, Jianwei Jiao
• Allele ID: MGI:6726263
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tcf20^em1Jwji/Tcf20^em1Jwji	Not Specified	MGI:6726264
ht2	Tcf20^em1Jwji/Tcf20^+	Not Specified	MGI:6726265

Genotype
MGI:6726264

hm1

• Allelic Composition: Tcf20^em1Jwji/Tcf20^em1Jwji
• Genetic Background: Not Specified

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:306854 )

• over 80% of mice die before P14

growth/size/body

decreased body weight ( J:306854 )

• body weight is decreased from embryo to P14

postnatal growth retardation ( J:306854 )

• mice show severe global development delay from embryo to P14

prenatal growth retardation ( J:306854 )

• mice show severe global development delay from embryo to P14

behavior/neurological

decreased vocalization ( J:306854 )

• call numbers and total call durations, as well as single call duration, are reduced in pups

nervous system

abnormal telencephalon development ( J:306854 )

• embryos show impaired neurogenesis, showing abnormal cell distribution in the cerebral cortex

decreased brain size ( J:306854 )

• brain size is decreased from embryo to P14

abnormal cerebral cortex morphology ( J:306854 )

• mice show abnormal cell distribution in the cerebral cortex

Genotype
MGI:6726265

ht2

• Allelic Composition: Tcf20^em1Jwji/Tcf20⁺
• Genetic Background: Not Specified

behavior/neurological

abnormal spatial working memory ( J:306854 )

• in the Y-maze test, mice show a decreased tendency to enter the new arms, indicating disruption of working memory

increased anxiety-related response ( J:306854 )

• in the elevated-plus maze, the moving time in the open arms is reduced, indicating anxiety

abnormal response to social novelty ( J:306854 )

• in the three-chamber test, mice do not prefer to interact with new novel wild-type mice, indicating social interaction defects

circling ( J:306854 )

• mice run in circles in home cages

increased stereotypic behavior ( J:306854 )

• in the marble burying test, mice bury more marbles than wild-type mice, indicating repetitive behavior

• however, mice show normal behavior in the open field test

decreased vocalization ( J:306854 )

• call numbers and total call durations are reduced in pups

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:306854
Phelan-McDermid syndrome		DOID:0080354	OMIM:606232	J:306854