Phenotypes associated with this allele

• Allele Symbol: Ntf3^tm1Mpin
• Allele Name: targeted mutation 1, Max-Planck-Institute of Neurobiology
• Allele ID: MGI:2388319
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ntf3^tm1Mpin/Ntf3^tm1Mpin	involves: 129S1/Sv	MGI:3819972
ht2	Ntf3^tm1Mpin/Ntf3^+	involves: 129S1/Sv	MGI:3819973

Genotype
MGI:3819972

hm1

• Allelic Composition: Ntf3^tm1Mpin/Ntf3^tm1Mpin
• Genetic Background: involves: 129S1/Sv

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:79302 )

• most mice die on the same day they are born

postnatal lethality, complete penetrance ( J:79302 )

• no mouse survives beyond P16

nervous system

abnormal sensory neuron innervation pattern ( J:79302 )

• at P14, surviving mice exhibit a substantial loss of myelinated axons to 61% of wild-type in the cutaneous saphenous nerve

abnormal Merkel's receptor morphology ( J:79302 )

• at P14, no Merkel cells are present unlike in wild-type mice

• at P14, mice exhibit a virtually complete loss of glabrous skin Merkel cells and their innervation of the foot pad unlike in wild-type mice

• however, at P2 the number of Merkel cells and their innervation is normal

behavior/neurological

ataxia ( J:79302 )

• all mice exhibit sensory ataxia

Genotype
MGI:3819973

ht2

• Allelic Composition: Ntf3^tm1Mpin/Ntf3⁺
• Genetic Background: involves: 129S1/Sv

nervous system

nervous system phenotype ( J:79302 )

N • despite the loss of cutaneous axons and hair receptors, mice exhibit no evidence of demyelination or axonal degeneration and the coding properties of remaining receptors and axons are normal

abnormal sensory neuron innervation pattern ( J:79302 )

• mice exhibit loss of cutaneous myelinated axons to 76% of wild-type

• most of the axons lost are in the larger size range with some smaller sized axons also lost

• mice exhibit a 78% reduction in the incidence of SA-type afferents with a corresponding increase in RA-type afferents (from 52% to 90%) among Abeta afferents compared to in wild-type mice

• mice exhibit a loss of Adelta axons of 3 to 3.5 um in diameter compared to in wild-type mice

abnormal cutaneous/subcutaneous mechanoreceptor morphology ( J:79302 )

• D-hair receptors are reduced 50% compared to in wild-type mice

abnormal Merkel's receptor morphology ( J:79302 )

• mice exhibit a reduction to 15% of wild-type in the average number of Merkel cells per complex

• at P14, the total number of Merkel cells is decreased to 50% of wild-type

• however, at P2 the number of Merkel cells and their innervation is normal