Phenotypes Associated with This Genotype

Genotype
MGI:6274313

• Allelic Composition: Elp1^tm1.1Gilas/Elp1^tm1.1Gilas; Tg(Dct-cre)1Apdn/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

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

growth/size/body

decreased body size ( J:237480 )

• newborns are smaller

decreased body weight ( J:237480 )

• 2 month old mice have 20% lower body weight than wild-type mice

postnatal growth retardation ( J:237480 )

• mice exhibit developmental delays

behavior/neurological

abnormal postural reflex ( J:237480 )

• 3 month old mice show abnormal posturing when suspended by the tail

limb grasping ( J:237480 )

• 3 month old mice show limb-clasping when suspended by the tail

impaired coordination ( J:237480 )

• the gap between the two hindpaws when mice are lifted is much shorter than that of controls

increased thermal nociceptive threshold ( J:237480 )

• 3 month old mice exhibit less thermal perception of sensation in the hot plate analgesia test

digestive/alimentary system

abnormal intestinal peristalsis ( J:237480 )

• mice have brownish and enlarged, swollen intestines, indicating gastrointestinal dysmotility

muscle

abnormal intestinal peristalsis ( J:237480 )

• mice have brownish and enlarged, swollen intestines, indicating gastrointestinal dysmotility

nervous system

decreased brain weight ( J:237480 )

• brains weigh 25% less than control brains

abnormal sensory neuron innervation pattern ( J:237480 )

• nearly all peripheral dorsal root ganglion axonal projections are thinner in the forelimbs and the axon patterns are abnormal

• dorsal root ganglion neurites are on average 15% longer in the forelimbs and there are 21% more branches in neurites indicating axonal projection guidance defects

abnormal neurite morphology ( J:237480 )

• dorsal root ganglion neurites are on average 15% longer in the forelimbs and there are 21% more branches in neurites

• cultured dorsal root ganglia have more neurite outgrowth than control dorsal root ganglia, longer neurite processes, and excessive branching

• dorsal root ganglia explants treated with phosphatidylserine have less neurite outgrowth, shorter neurite processes and less branching per cell

abnormal dorsal root ganglion morphology ( J:237480 )

• 45% reduction in the average number of dorsal root ganglia and a 67% reduction in dorsal root ganglia area at E13.5

• nearly all peripheral dorsal root ganglion axonal projections are thinner in the forelimbs and the axon patterns are abnormal

• dorsal root ganglion neurites are on average 15% longer in the forelimbs and there are 21% more branches in neurites

• dorsal root ganglia show elevated HDAC6 levels, reduced acetylated alpha-tubulin, unstable microtubules, and impairment of axonal retrograde transport of nerve growth factor

dorsal root ganglion degeneration ( J:237480 )

• 45% reduction in the average number of dorsal root ganglia and a 67% reduction in dorsal root ganglia area at E13.5, indicating massive cell loss during embryonic development

small dorsal root ganglion ( J:237480 )

• dorsal root ganglia are smaller at E13.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Riley-Day syndrome		DOID:11589	OMIM:223900	J:237480