Phenotypes associated with this allele

• Allele Symbol: Ret^tm1.1Pern
• Allele Name: targeted mutation 1.1, Patrik Ernfors
• Allele ID: MGI:4440475
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ret^tm1.1Pern/Ret^tm1.1Pern	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:4440534
cn2	Nkx6-2^tm2(cre)Ercs/Nkx6-2^+ Ret^tm1.1Pern/Ret^tm1.1Pern	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:4440537

Genotype
MGI:4440534

hm1

• Allelic Composition: Ret^tm1.1Pern/Ret^tm1.1Pern
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

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

normal phenotype

no abnormal phenotype detected ( J:131770 )

• animals are born at normal Mendelian frequency and survive through adulthood

Genotype
MGI:4440537

cn2

• Allelic Composition: Nkx6-2^tm2(cre)Ercs/Nkx6-2⁺; Ret^tm1.1Pern/Ret^tm1.1Pern
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

nervous system

abnormal hypoglossal nucleus morphology ( J:131770 )

• at E18.5, a 20% decrease in motor neuron nuclei is detected, with a 42% reduction in adult animals

• no further loss of motor neurons is observed after axotomy compared to wild-type

• no increase in cell death after nerve lesion is observed relative to controls

abnormal facial motor nucleus morphology ( J:131770 )

• at E18.5, a 22% decrease in motor neuron nuclei is detected, with a 37% decrease observed in adult mice

• after axotomy, almost 2x the number of regenerating motor neurons are lost compared to wild type animals

abnormal neuromuscular synapse morphology ( J:131770 )

• synaptic maturation is impaired; quantification of synaptophysin, synapsin and AChR shows loss of synaptophysin and synapsin at E18 but not in adult mice, but AChR quantification is similar between genotypes

• adult mice have significantly fewer endplates than control mice

• after transection of the hypoglossal nerve, size of the AChR postsynaptic membrane is larger in the reinnervated synapses in lesioned mutants with more diffuse AChR localizations within the specialization; numbers of neurofilament-positive fibers and volume occupied by these fibers are not different from control mice

• reduction of AChRs, synapsin I and synaptophysin is observed compared to lesioned controls, but number os endplates is similar between lesioned control and mutant animals

renal/urinary system

renal/urinary system phenotype ( J:131770 )

N • kidneys develop normally