Mouse Genome Informatics
hm1
    Ndntm1.1Mus/Ndntm1.1Mus
involves: 129S2/SvPas * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• a neonatal lethality of variable penetrance is observed in both male and female
• surviving mice were fertile and show no sign of obesity

homeostasis/metabolism
• newborn mutant mice dying within first 48 hours after birth appeared cyanotic

respiratory system
• newborn mutant mice dying within first 48 hours after birth show signs of respiratory distress


Mouse Genome Informatics
ht2
    Ndntm1.1Mus/Ndn+
B6.129S2-Ndntm1.1Mus
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

In vivo analysis of axonal growth in Ndntm1.1Mus/Ndn+ embryos

behavior/neurological
• time spent in an accelerated rotarod is reduced and the latency to reach the goal platform in the beam walking test is increased in mice with a paternally inherited allele
• mice with a paternally inherited allele show reduced withdrawal latency on a hot plate test compared to wild-type, indicating reduced pain threshold

nervous system
• cutaneous innervation in the hindpad is reduced in mice with a paternally inherited allele, as indicated by reduced number of CGRP-immunoreactive fibers
• neurite outgrowth from DRG explants isolated from E13.5 mutants with a paternally inherited allele and grown in culture is reduced by 18.3%
• partial loss of proproceptive (TrkC expressing) sensory neurons in mice with a paternally inherited allele
• afferent projections from the proprioceptive neurons are reduced in the intermediate spinal cord of E17.5 mice with a paternally inherited allele
• mice with a paternally inherited allele, show a 37% reduction in the L1 dorsal root ganglia (DRG) volume at P0
• lumbar DRGs of mice with a paternally inherited allele show a reduction of 26.2% in the density of TrkA-expressing cells and a reduction of 37.8% in TrkC-positive neurons
• mutants with a paternally inherited allele exhibit an increase of apoptosis in lumbar DRG at E12.5, restricted to neurons and does not affect progenitors
• when this allele is paternally inherited, the monosynaptic reflex response on the plantar muscle shows a higher H-wave amplitude and H/M amplitude ratio

cellular

integument
• mice with a paternally inherited allele show reduced withdrawal latency on a hot plate test compared to wild-type, indicating reduced pain threshold

Mouse Models of Human Disease
OMIM IDRef(s)
Prader-Willi Syndrome; PWS 176270 J:119656


Mouse Genome Informatics
ht3
    Ndntm1.1Mus/Ndn+
involves: 129S2/SvPas * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• the number of hypothalamic oxytocin- and luteinizing hormone-releasing hormone-producing neurons is decreased in paternal-deficient heterozygous mice
• paternal-deficient mice showed no gross morphological abnormalities
• general histological makers revealed no obvious differences in brain structure in paternal-deficient heterozygous mice

behavior/neurological
• skin scraping was significantly increased in paternal-deficient mice
• spatial learning assessed in the Morris water maze test show improved ability of the mutant to remember accurately the location of the platform in paternal-deficient heterozygous mice

Mouse Models of Human Disease
OMIM IDRef(s)
Prader-Willi Syndrome; PWS 176270 J:66557