Phenotypes associated with this allele

• Allele Symbol: Rnf2^tm1Mvl
• Allele Name: targeted mutation 1, Maarten van Lohuizen
• Allele ID: MGI:2653961
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rnf2^tm1Mvl/Rnf2^tm1Mvl	either: (involves: 129/Ola) or (involves: 129/Ola * FVB)	MGI:2653963
cx2	Bmi1^tm1Brn/Bmi1^tm1Brn Rnf2^tm1Mvl/Rnf2^+	involves: 129/Ola * FVB	MGI:3852545
cx3	Cdkn2a^tm1Rdp/Cdkn2a^tm1Rdp Rnf2^tm1Mvl/Rnf2^tm1Mvl	involves: 129P2/Ola * 129/Sv * C57BL/6J * FVB/N * SJL	MGI:3852547

Genotype
MGI:2653963

hm1

• Allelic Composition: Rnf2^tm1Mvl/Rnf2^tm1Mvl
• Genetic Background: either: (involves: 129/Ola) or (involves: 129/Ola * FVB)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:82399 )

• death before E10.5

embryo

abnormal mesoderm development ( J:82399 )

• accumulation of posterior mesoderm

failure to gastrulate ( J:82399 )

embryonic growth arrest ( J:82399 )

• mutants are delayed in development at E6.5-E8.5 and never reach the headfold stage

abnormal embryonic epiblast morphology ( J:82399 )

• epiblast fails to expand normally

Genotype
MGI:3852545

cx2

• Allelic Composition: Bmi1^tm1Brn/Bmi1^tm1Brn; Rnf2^tm1Mvl/Rnf2⁺
• Genetic Background: involves: 129/Ola * FVB

mortality/aging

premature death ( J:82399 )

• mutants die at 4-5 weeks of age, earlier than single homozygous Bmi1 mutants

growth/size/body

decreased body size ( J:82399 )

decreased body weight ( J:82399 )

postnatal growth retardation ( J:82399 )

• delay in postnatal development at P10, from which point onward, growth ceases almost entirely

behavior/neurological

impaired coordination ( J:82399 )

• severe lack of coordination

abnormal gait ( J:82399 )

• mutants exhibit a more abnormal gait than single homozygous Bmi1 mutants impaired coordination [MP:0001405

nervous system

abnormal Purkinje cell dendrite morphology ( J:82399 )

• arborization of Purkinje cells in the molecular layer is different, with thicker and less branched dendrites

abnormal cerebellar granule layer morphology ( J:82399 )

• reduction in cellularity and size of the granular layer of the cerebellum

abnormal cerebellar molecular layer ( J:82399 )

• reduction in cellularity and size of the molecular layer of the cerebellum

small cerebellum ( J:82399 )

gliosis ( J:82399 )

skeleton

abnormal axial skeleton morphology ( J:82399 )

• mutants exhibit axial skeleton abnormalities in the cervical, thoracic, lumbar and sacral regions

Genotype
MGI:3852547

cx3

• Allelic Composition: Cdkn2a^tm1Rdp/Cdkn2a^tm1Rdp; Rnf2^tm1Mvl/Rnf2^tm1Mvl
• Genetic Background: involves: 129P2/Ola * 129/Sv * C57BL/6J * FVB/N * SJL

embryo

embryonic growth arrest ( J:82399 )

• development does not progress past E11-E12

abnormal somite development ( J:82399 )

• some somites are laid down in paraxial mesoderm which is never observed in Rnf2 homozygotes

nervous system

abnormal forebrain development ( J:82399 )

• abnormal forebrain development with a near complete lack of head mesenchyme