Phenotypes associated with this allele

• Allele Symbol: Ndn^tm1.1Mus
• Allele Name: targeted mutation 1.1, Francoise Muscatelli
• Allele ID: MGI:2653064
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ndn^tm1.1Mus/Ndn^tm1.1Mus	involves: 129S2/SvPas * C57BL/6J	MGI:2653061
ht2	Ndn^tm1.1Mus/Ndn^+	B6.129S2-Ndn^tm1.1Mus	MGI:3773672
ht3	Ndn^tm1.1Mus/Ndn^+	involves: 129S2/SvPas * C57BL/6J	MGI:3723649

Genotype
MGI:2653061

hm1

• Allelic Composition: Ndn^tm1.1Mus/Ndn^tm1.1Mus
• Genetic Background: involves: 129S2/SvPas * C57BL/6J

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:66557 )

• 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

cyanosis ( J:66557 )

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

respiratory system

respiratory distress ( J:66557 )

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

Genotype
MGI:3773672

ht2

• Allelic Composition: Ndn^tm1.1Mus/Ndn⁺
• Genetic Background: B6.129S2-Ndn^tm1.1Mus

In vivo analysis of axonal growth in Ndn^tm1.1Mus/Ndn⁺ embryos

behavior/neurological

impaired coordination ( J:119656 )

• 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

decreased thermal nociceptive threshold ( J:119656 )

• 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

abnormal sensory neuron innervation pattern ( J:119656 )

• cutaneous innervation in the hindpad is reduced in mice with a paternally inherited allele, as indicated by reduced number of CGRP-immunoreactive fibers

abnormal dorsal root ganglion morphology ( J:119656 )

• neurite outgrowth from DRG explants isolated from E13.5 mutants with a paternally inherited allele and grown in culture is reduced by 18.3%

abnormal proprioceptive neuron morphology ( J:119656 )

• 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

abnormal lumbar dorsal root ganglion morphology ( J:119656 )

• 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

abnormal nervous system electrophysiology ( J:119656 )

• 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

maternal imprinting ( J:119656 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Prader-Willi syndrome		DOID:11983	OMIM:176270	J:119656

Genotype
MGI:3723649

ht3

• Allelic Composition: Ndn^tm1.1Mus/Ndn⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6J

nervous system

abnormal hypothalamus morphology ( J:66557 )

• 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

abnormal spatial learning ( J:66557 )

• 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

excessive scratching ( J:66557 )

• skin scraping was significantly increased in paternal-deficient mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Prader-Willi syndrome		DOID:11983	OMIM:176270	J:66557