Phenotypes Associated with This Genotype

Genotype
MGI:5558037

• Allelic Composition: Elp1^{tm1c(KOMP)Wtsi}/Elp1^{tm1c(KOMP)Wtsi}; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * C57BL/6N * CBA/J

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

Reduced numbers of sympathetic and dorsal root ganglia neurons in Elp1^{tm1c(KOMP)Wtsi}/Elp1^{tm1c(KOMP)Wtsi} H2az2^{Tg(Wnt1-cre)11Rth}/0 fetuses

mortality/aging

neonatal lethality, complete penetrance ( J:202989 )

• die within 24 h of birth

nervous system

abnormal neuron differentiation ( J:202989 )

• premature differentiation of TrkA progenitors during the second wave of neurogenesis

abnormal superior cervical ganglion morphology ( J:202989 )

• nearly a 70% decrease in the number of TH+ neurons in the superior cervical ganglion at E17.5

abnormal sensory neuron innervation pattern ( J:202989 )

• central projections of TrkA+ dorsal root ganglia neurons are considerably reduced in the dorsal horn of the spinal cord

• decrease in the prevalence of TrkA+ fibers in the skin at E17.5

• TH+ sympathetic terminals rarely innervate the parasympathetic cell bodies in the submandibular gland

decreased neuron number ( J:202989 )

• decrease in the total number and number of TrkA+ dorsal root ganglia neurons at E10.5 and E12.5 but not at E11.5

• nearly a 70% decrease in the number of TH+ neurons in the superior cervical ganglion at E17.5

• the total number of dorsal root ganglia neurons are reduced by 1/3 at E17.5

decreased sensory neuron number ( J:202989 )

• a 50% decrease in the number of pain- and temperature-receptive neurons at E17.5

increased neuron number ( J:202989 )

• slight but significant increase in the number of TrkC expressing neurons (mechanoreceptors) in the dorsal root ganglia

abnormal dorsal root ganglion morphology ( J:202989 )

• decrease in the total number of dorsal root ganglia neurons at E10.5

• the total number of dorsal root ganglia neurons are reduced by 1/3 at E17.5

• neurons transiently expressing TH (possible future thermal pain receptors) are virtually absent

• slight but significant increase in the number of TrkC expressing neurons (mechanoreceptors)

abnormal nervous system physiology ( J:202989 )

• substance P is virtually absent in the dorsal root ganglia

increased neuron apoptosis ( J:202989 )

• in the superior cervical ganglion and dorsal root ganglia at E17.5

• in the dorsal root ganglia at E12.5 and E17.5

craniofacial

mandibular retrognathia ( J:202989 )

• increased mandibular retroposition

abnormal facial morphology ( J:202989 )

• decreased inferior facial angle

growth/size/body

abnormal facial morphology ( J:202989 )

• decreased inferior facial angle

decreased fetal size ( J:202989 )

• at E18.5

digestive/alimentary system

abnormal submandibular gland morphology ( J:202989 )

• parasympathetic cell bodies are reduced by 31%

skeleton

mandibular retrognathia ( J:202989 )

• increased mandibular retroposition

cellular

increased neuron apoptosis ( J:202989 )

• in the superior cervical ganglion and dorsal root ganglia at E17.5

• in the dorsal root ganglia at E12.5 and E17.5

abnormal neuron differentiation ( J:202989 )

• premature differentiation of TrkA progenitors during the second wave of neurogenesis

endocrine/exocrine glands

abnormal submandibular gland morphology ( J:202989 )

• parasympathetic cell bodies are reduced by 31%

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Riley-Day syndrome		DOID:11589	OMIM:223900	J:202989