Mouse Genome Informatics
hm
    Ntrk1tm1Bbd/Ntrk1tm1Bbd
involves: 129S2/SvPas
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• although normal at birth, about 50% of homozygotes die by P20
• no homozygotes survive beyond P55

growth/size
• at P10, homozygotes are noticeably smaller than wild-type mice

behavior/neurological
• at p10, homozygotes fail to react to deep pinpricks in the their whisker pads and rear paws
• at P10, homozygotes fail to orient in response to vibrissal stimulation
• at P10, homozygotes remain on a hot plate at 60 degrees Celsius for at least 10 sec, whereas wild-type and heterozygous mice jump off within 1-2 sec

nervous system
• at P0, a number of sympathetic ganglia display neuronal loss
• at P0, superior cervical ganglia (SCG) show neuronal loss as well as pyknotic nuclei, suggesting cellular degeneration
• by P10, the SGC is severely shrunken
• adult homozygotes display a reduction in the cholinergic basal forebrain projections to the hippocampus and cerebral cortex
• at P0, trigeminal ganglia are significantly smaller and the number of trigeminal neurons is reduced by 70-90%
• other cranial ganglia appear normal
• at P0, dorsal root ganglia show a 70-90% loss of neurons; small-sized neurons are preferentially lost
• upon eye illumination, the iris constricts without efficient redilation, indicating that the parasympathetic component of the oculomotor nerve is intact but the sympathetic innervation from the superior cervical ganglion is defective
• in contrast, the facial, acoustic and glossopharyngeal nerves function normally

pigmentation
• at >3-4 weeks of age, homozygotes display a mottled fur

vision/eye
• by P20, surviving homozygotes have myotic pupils
• at >3-4 weeks, corneal opacities are observed
• by P20, surviving homozygotes exhibit slight ptosis

limbs/digits/tail
• at >3-4 weeks, digits are missing, probably due to self-mutilation
• at >3-4 weeks, homozygotes display ulcerated paws

integument
• at p10, homozygotes fail to react to deep pinpricks in the their whisker pads and rear paws
• at P10, homozygotes remain on a hot plate at 60 degrees Celsius for at least 10 sec, whereas wild-type and heterozygous mice jump off within 1-2 sec
• at >3-4 weeks of age, homozygotes display a mottled fur
• at >3-4 weeks of age, homozygotes develop multiple scabs all over their body

Mouse Models of Human Disease
OMIM IDRef(s)
Insensitivity to Pain, Congenital, with Anhidrosis; CIPA 256800 J:17194