Phenotypes associated with this allele

• Allele Symbol: Prmt5^{tm2c(EUCOMM)Wtsi}
• Allele Name: targeted mutation 2c, Wellcome Trust Sanger Institute
• Allele ID: MGI:5546597
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Prmt5^tm2c(EUCOMM)Wtsi/Prmt5^tm2c(EUCOMM)Wtsi Tg(Nes-cre)1Kln/0	B6.Cg-Prmt5^tm2c(EUCOMM)Wtsi Tg(Nes-cre)1Kln	MGI:5546601
cn2	Prmt5^tm2c(EUCOMM)Wtsi/Prmt5^tm2c(EUCOMM)Wtsi Gt(ROSA)26Sor^tm2(cre/ERT2)Brn/Gt(ROSA)26Sor^+	involves: 129P2/OlaHsd * 129S1/SvlmJ * C57BL/6Brd * C57BL/6N * SJL	MGI:5546603
cn3	Prmt5^tm2c(EUCOMM)Wtsi/Prmt5^tm2c(EUCOMM)Wtsi Tg(Col2a1-cre)#Amc/0	involves: C57BL/6N	MGI:7277815
cn4	Prmt5^tm2c(EUCOMM)Wtsi/Prmt5^tm2c(EUCOMM)Wtsi Tg(Col2a1/Acan-rtTA,tetO-cre)#Vlf/0	involves: C57BL/6N	MGI:7277816
cn5	Prmt5^tm2c(EUCOMM)Wtsi/Prmt5^tm2c(EUCOMM)Wtsi Tg(BGLAP-cre)1Clem/0	involves: C57BL/6N * FVB/NJ	MGI:7277817

Genotype
MGI:5546601

cn1

• Allelic Composition: Prmt5^{tm2c(EUCOMM)Wtsi}/Prmt5^{tm2c(EUCOMM)Wtsi}; Tg(Nes-cre)1Kln/0
• Genetic Background: B6.Cg-Prmt5^{tm2c(EUCOMM)Wtsi} Tg(Nes-cre)1Kln
• Cell Lines: EPD0160_2_A08

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

mortality/aging

postnatal lethality, complete penetrance ( J:201152 )

• all die by P14

nervous system

increased neuron apoptosis ( J:201152 )

• apoptotic cells are detected at E15.5 in the ventricular/subventricular zone and ganglionic eminence

abnormal neuronal precursor proliferation ( J:201152 )

• decrease in the number of proliferating neuronal precursor cells at P0

• decrease in the number of primary neurospheres and the number of cells in the neurospheres produced by cultured neuronal precursor cells from E14.5 mice

• self renewal potential of neuronal precursor cells is impaired

abnormal cortical plate morphology ( J:201152 )

• reduced cellularity at P0

decreased cortical ventricular zone cell density ( J:201152 )

• reduced cellularity at P0

abnormal cerebellum external granule cell layer morphology ( J:201152 )

• absent at P10

decreased brain size ( J:201152 )

decreased brain weight ( J:201152 )

• detectable at E17.5

abnormal lateral ventricle morphology ( J:201152 )

• enlarged and disrupted at P10

enlarged lateral ventricles ( J:201152 )

thin cerebral cortex ( J:201152 )

abnormal embryonic/fetal subventricular zone morphology ( J:201152 )

• reduced cellularity at P0

behavior/neurological

tremors ( J:201152 )

impaired balance ( J:201152 )

• balance disorders

akinesia ( J:201152 )

cellular

increased neuron apoptosis ( J:201152 )

• apoptotic cells are detected at E15.5 in the ventricular/subventricular zone and ganglionic eminence

abnormal neuronal precursor proliferation ( J:201152 )

• decrease in the number of proliferating neuronal precursor cells at P0

• decrease in the number of primary neurospheres and the number of cells in the neurospheres produced by cultured neuronal precursor cells from E14.5 mice

• self renewal potential of neuronal precursor cells is impaired

Genotype
MGI:5546603

cn2

• Allelic Composition: Prmt5^{tm2c(EUCOMM)Wtsi}/Prmt5^{tm2c(EUCOMM)Wtsi}; Gt(ROSA)26Sor^{tm2(cre/ERT2)Brn}/Gt(ROSA)26Sor⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S1/SvlmJ * C57BL/6Brd * C57BL/6N * SJL
• Cell Lines: EPD0160_2_A08

embryo

embryonic growth retardation ( J:201152 )

• at E15.5 following tamoxifen treatment at E10.5

decreased embryo size ( J:201152 )

• at E15.5 following tamoxifen treatment at E10.5

integument

pallor ( J:201152 )

• at E15.5 following tamoxifen treatment at E10.5

growth/size/body

embryonic growth retardation ( J:201152 )

• at E15.5 following tamoxifen treatment at E10.5

decreased embryo size ( J:201152 )

• at E15.5 following tamoxifen treatment at E10.5

Genotype
MGI:7277815

cn3

• Allelic Composition: Prmt5^{tm2c(EUCOMM)Wtsi}/Prmt5^{tm2c(EUCOMM)Wtsi}; Tg(Col2a1-cre)#Amc/0
• Genetic Background: involves: C57BL/6N

mortality/aging

preweaning lethality, complete penetrance ( J:283043 )

• most die before P10 with none surviving to P16

growth/size/body

decreased body size ( J:283043 )

• of 4 mice that survived to P10, 2 are much smaller than littermate controls

skeleton

abnormal intervertebral disk morphology ( J:283043 )

• at P1 an increase in midline clefts in the endplate are seen

• at P10, chondrocytes in the endplate appear larger and the surrounding matrix is more intensely stained with Alcian Blue

• the inner and outer layers of the annulus fibrosus stain more intensely with Alcian Blue

abnormal intervertebral disk development ( J:283043 )

• expression analysis indicates abnormal differentiation of cartilaginous tissues

scoliosis ( J:283043 )

• thoracic scoliosis at P10 with an average Cobb angle of 30 +/- 4 degrees

abnormal vertebrae morphology ( J:283043 )

• some mild wedging of the vertebra at the apex of the curvature

• severe decrease in trabecular bone formation in the T6 vertebra

• delay in the formation of the endochondral ossification in the vertebral bodies at P1 and an increase in midline clefts in the vertebral growth plate

• at P10, there is an increased number of cell layers in the hypertrophic zone of the vertebral growth plate and a minor increase in the number of cells or cell layers in the proliferative/prehypertrophic zone of the growth plate

abnormal vertebral body development ( J:283043 )

• expression analysis indicates abnormal differentiation of cartilaginous tissues in the growth plate of the spine

small vertebrae ( J:283043 )

• overall smaller vertebrae

decreased trabecular bone volume ( J:283043 )

• in the T6 vertebra

abnormal chondrocyte morphology ( J:283043 )

• general disorganization of chondrocytes in the vertebrae

• at P10, chondrocytes in the intervertebral disk endplate appear larger and the surrounding matrix is more intensely stained with Alcian Blue

decreased bone mineralization ( J:283043 )

• lateral X-rays show reduced signal attenuation in the distal ribs indicative of reduced mineralized bone

abnormal endochondral bone ossification ( J:283043 )

• impaired in the thoracic vertebral bodies at P1 and P10

delayed endochondral bone ossification ( J:283043 )

• delay in the formation of the endochondral ossification in the vertebral bodies at P1

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
idiopathic scoliosis		DOID:0060250		J:283043

Genotype
MGI:7277816

cn4

• Allelic Composition: Prmt5^{tm2c(EUCOMM)Wtsi}/Prmt5^{tm2c(EUCOMM)Wtsi}; Tg(Col2a1/Acan-rtTA,tetO-cre)#Vlf/0
• Genetic Background: involves: C57BL/6N

skeleton

skeleton phenotype ( J:283043 )

N • no signs of scoliosis are seen following induction of recombinase expression at either 2 or 4 weeks of age

abnormal intervertebral disk morphology ( J:283043 )

• at 4 months of age, 3 months post induction of recombinase expression, there is a minor increase in acellular clefts at the midline of the endplate

• however, no gross signs of degenerative histopathology are seen

Genotype
MGI:7277817

cn5

• Allelic Composition: Prmt5^{tm2c(EUCOMM)Wtsi}/Prmt5^{tm2c(EUCOMM)Wtsi}; Tg(BGLAP-cre)1Clem/0
• Genetic Background: involves: C57BL/6N * FVB/NJ

skeleton

skeleton phenotype ( J:283043 )

N • no signs of scoliosis at P10 or 2 months of age