Phenotypes associated with this allele

• Allele Symbol: Nptx1^tm1Mspn
• Allele Name: targeted mutation 1, Mark S Perin
• Allele ID: MGI:3628746
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nptx1^tm1Mspn/Nptx1^tm1Mspn	involves: 129S7/SvEvBrd	MGI:3629078
hm2	Nptx1^tm1Mspn/Nptx1^tm1Mspn	involves: 129S7/SvEvBrd * C57BL/6	MGI:3629077
cx3	Nptx1^tm1Mspn/Nptx1^tm1Mspn Nptx2^tm1Mspn/Nptx2^tm1Mspn	involves: 129S7/SvEvBrd * C57BL/6	MGI:3629079
cx4	Nptx1^tm1Mspn/Nptx1^tm1Mspn Nptx2^tm1Mspn/Nptx2^tm1Mspn Nptxr^tm1Mspn/Nptxr^tm1Mspn	involves: 129S7/SvEvBrd * C57BL/6	MGI:3629080

Genotype
MGI:3629078

hm1

• Allelic Composition: Nptx1^tm1Mspn/Nptx1^tm1Mspn
• Genetic Background: involves: 129S7/SvEvBrd

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

nervous system

nervous system phenotype ( J:62756 )

N • no obvious cerebral, cerebellar, or hippocampal ultrastructural abnormalities

behavior/neurological

behavior/neurological phenotype ( J:62756 )

N • no obvious changes of gait or behavior

Genotype
MGI:3629077

hm2

• Allelic Composition: Nptx1^tm1Mspn/Nptx1^tm1Mspn
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

nervous system

abnormal innervation ( J:109215 )

• at P10, mild expansion of the ipsalateral eye input into the dorsal lateral geniculate nucleus

Genotype
MGI:3629079

cx3

• Allelic Composition: Nptx1^tm1Mspn/Nptx1^tm1Mspn; Nptx2^tm1Mspn/Nptx2^tm1Mspn
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

nervous system

abnormal innervation ( J:109215 )

• at P10 retinal ganglion cell projections into the dorsal lateral geniculate nucleus (dLGN) lack eye specific segregation with projections from the contralateral filling the entire dLGN overlapping with single or multiple ipsalateral eye projection zones

• at P30 retinal ganglion cell projections appear to be separated; however, axons from the ispalateral eye continue to cover a larger area of the dLGN and multiple ipsalateral termination zones are seen rather than a single zone as in wild-type

• however, targeting of retinal ganglion cell axons through the optic chiasm is similar to wild-type

vision/eye

abnormal eye electrophysiology ( J:109215 )

• retinal ganglion cells display increased average action potential burst duration mostly due to the absence of burst shorter than 1.5 sec in duration

• retinal ganglion cells have a significantly higher overall spike rate and a slightly higher instantaneous firing frequency; however the correlation between near and distant spikes is maintained

• retinal ganglion cells cultured for 2 weeks with wild-type glia show delayed development of glutamatergic synaptic function

• however, visual transmission and visually mediated behavior in adult mice is similar to wild-type and no defects in hippocampal function are detected at P20 - P40

behavior/neurological

behavior/neurological phenotype ( J:109215 )

N • visually mediated behavior in adult mice is similar to wild-type

Genotype
MGI:3629080

cx4

• Allelic Composition: Nptx1^tm1Mspn/Nptx1^tm1Mspn; Nptx2^tm1Mspn/Nptx2^tm1Mspn; Nptxr^tm1Mspn/Nptxr^tm1Mspn
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

nervous system

abnormal innervation ( J:109215 )

• defects in segregation of retinal ganglion cell projections in the dorsal lateral geniculate nucleus are similar to those in mice double homozygous for the Nptx1 and Nptx2 alleles