Phenotypes associated with this allele

• Allele Symbol: Rab39b^em1Jfch
• Allele Name: endonuclease-mediated mutation 1, Jian-Fu Chen
• Allele ID: MGI:6695910
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rab39b^em1Jfch/Rab39b^em1Jfch	C57BL/6N-Rab39b^em1Jfch	MGI:6695981
ot2	Rab39b^em1Jfch/Y	C57BL/6N-Rab39b^em1Jfch	MGI:6695982

Genotype
MGI:6695981

hm1

• Allelic Composition: Rab39b^em1Jfch/Rab39b^em1Jfch
• Genetic Background: C57BL/6N-Rab39b^em1Jfch

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

nervous system

increased brain size ( J:287752 )

♀ • normal cortical thickness

♀ • increased hemisphere length and cortical area at age P20

increased brain weight ( J:287752 )

♀ • at age P20

♀ • increased brain-to-body weight ratio

♀ • normal cortical thickness

growth/size/body

growth/size/body region phenotype ( J:287752 )

♀N • normal body size, no gross dysmorphologies

decreased body weight ( J:287752 )

♀ • slightly decreased body weight at age P20

♀ • increased brain-to-body weight ratio

reproductive system

reproductive system phenotype ( J:287752 )

♀N • fertile

mortality/aging

mortality/aging ( J:287752 )

♀N • viable

Genotype
MGI:6695982

ot2

• Allelic Composition: Rab39b^em1Jfch/Y
• Genetic Background: C57BL/6N-Rab39b^em1Jfch

behavior/neurological

behavior/neurological phenotype ( J:287752 )

♂N • normal behavior and mobility in open field test

♂N • normal behavior in marble burying test

♂N • normal self-grooming behavior

♂N • normal motor coordination and balance

abnormal motor learning ( J:287752 )

♂ • no increased latency to fall at days 2 and 3 in accelerated rotarod test (wild-type mice increase latency)

abnormal response to social novelty ( J:287752 )

♂ • no difference in interaction with novel mouse cage vs familiar mouse cage (wild-type mice spend more time with novel mouse)

♂ • normal behavior in novel mouse cage vs empty cage test: more time spent with mouse

nervous system

increased brain size ( J:287752 )

♂ • normal cortical thickness

♂ • increased hemisphere length and cortical area at age P20

increased brain weight ( J:287752 )

♂ • at age P20 and in E18.5 embryos

♂ • increased brain-to-body weight ratio

♂ • normal cortical thickness

abnormal cerebral cortex morphology ( J:287752 )

♂ • increased Tbr1+ neurons in E16.5 embryos and Tbr1+ neurons and Ctip2+ neurons in E18.5 embryos

♂ • increased Cux1+ neurons t age P20

♂ • normal Cux1+ neurons in E18.5 embryos

♂ • normal distribution of Tbr1+, Cux1+ and Ctip2+ neurons in embryos

♂ • normal numbers of Tbr1+, Cux1+ and Ctip2+ neurons in E14.5 embryos

increased cerebral cortex cell number ( J:287752 )

♂ • increased Tbr1+ neurons in E16.5 embryos and Tbr1+ neurons and Ctip2+ neurons in E18.5 embryos

♂ • increased Cux1+ neurons t age P20

♂ • normal Cux1+ neurons in E18.5 embryos

♂ • increased proliferation and decreased cell cycle exit of neuronal precursor cells (NPCs) in E14.5 embryos

growth/size/body

growth/size/body region phenotype ( J:287752 )

♂N • normal body size, no gross dysmorphologies

decreased body weight ( J:287752 )

♂ • slightly decreased body weight at age P20

♂ • increased brain-to-body weight ratio

mortality/aging

mortality/aging ( J:287752 )

♂N • viable

reproductive system

reproductive system phenotype ( J:287752 )

♂N • fertile

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
syndromic X-linked intellectual disability		DOID:0060309	OMIM:PS309510	J:287752