Phenotypes Associated with This Genotype

Genotype
MGI:5790680

• Allelic Composition: Elp1^tm1.1Id/Elp1^tm1.2Id; Tg(IKBKAP*)#Sasl/0
• Genetic Background: involves: 129S1/Sv * C57BL/6N

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

mortality/aging

decreased survivor rate ( J:229459 )

• about 60% of mice survive postnatally; these mice have a normal life span

growth/size/body

abnormal fungiform papillae morphology ( J:229459 )

• mice exhibit fewer fungiform papillae at 4 weeks, and 3, 6, and 12 months of age

abnormal gustatory papilla taste bud morphology ( J:229459 )

• although fungiform papillae of tongues have taste buds, they are smaller with abnormal morphology and less sensory innervation

decreased birth body size ( J:229459 )

decreased body weight ( J:229459 )

• aged mice are about 70% the weight of controls

decreased body length ( J:229459 )

• aged mice are about 90% the length of controls

postnatal growth retardation ( J:229459 )

• reduction in growth rate

decreased fetal size ( J:229459 )

• smaller at E18.5, with shorter body lengths

decreased fetal weight ( J:229459 )

• reduced body weight at E18.5

adipose tissue

decreased total body fat amount ( J:229459 )

• mice have very little fat content

decreased epididymal fat pad weight ( J:229459 )

behavior/neurological

increased grooming behavior ( J:229459 )

• mice show excessive grooming after weaning (P28)

limb grasping ( J:229459 )

• hindlimb clasping that becomes severe over time

ataxia ( J:229459 )

• ataxic gait after weaning

craniofacial

abnormal fungiform papillae morphology ( J:229459 )

• mice exhibit fewer fungiform papillae at 4 weeks, and 3, 6, and 12 months of age

abnormal gustatory papilla taste bud morphology ( J:229459 )

• although fungiform papillae of tongues have taste buds, they are smaller with abnormal morphology and less sensory innervation

digestive/alimentary system

abnormal fungiform papillae morphology ( J:229459 )

• mice exhibit fewer fungiform papillae at 4 weeks, and 3, 6, and 12 months of age

abnormal gustatory papilla taste bud morphology ( J:229459 )

• although fungiform papillae of tongues have taste buds, they are smaller with abnormal morphology and less sensory innervation

embryo

small placenta ( J:229459 )

nervous system

abnormal stellate ganglion morphology ( J:229459 )

• the volume of stellate ganglia is already reduced at E18.5

• however, neuronal density in stellate ganglia is not different at E18.5

small superior cervical ganglion ( J:229459 )

• a large fraction of superior cervical ganglia are smaller and vacuolated, with the average volume about 50% that of controls by 18 months of age

• the volume of superior cervical ganglia is already reduced at E18.5

• however, neuronal density in superior cervical is not different at E18.5, indicating postntal degeneration

superior cervical ganglion degeneration ( J:229459 )

• reduction in neuronal numbers at 18 months of age

abnormal sensory neuron innervation pattern ( J:229459 )

• density of epidermal nerve fibers in the plantar hind paws of 12 month old mice is reduced, indicating reduced cutaneous sensory innervation of hind paw skin

• decrease in sensory innervation to taste buds

abnormal dorsal root ganglion morphology ( J:229459 )

• the volumes of the dorsal root ganglia are already reduced at E18.5

• the number of trkA/calcitonin gene-related peptide (CGRP) positive nociceptive neurons are reduced in the dorsal root ganglia at E18.5

abnormal lumbar dorsal root ganglion morphology ( J:229459 )

• the relative proportion of small dark B cells in lumbar dorsal root ganglia is reduced at 12 months of age while the proportion of A cells is increased

neurodegeneration ( J:229459 )

• neurodegeneration, in particular in sympathetic ganglia, occurs mainly postnatally

skeleton

kyphosis ( J:229459 )

• the Cobb angle (formed by the intersection of two lines plotted at the end-vertebrae of the curve deformity) is increased in 6 month old mice

• however, obvious skeletal malformations are not seen at E18.5

delayed bone ossification ( J:229459 )

• slight delay in ossification is seen at E18.5, particularly a delay in ossification of parietal and intraparietal cranial bones and in the phalanges

taste/olfaction

abnormal gustatory papilla taste bud morphology ( J:229459 )

• although fungiform papillae of tongues have taste buds, they are smaller with abnormal morphology and less sensory innervation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Riley-Day syndrome		DOID:11589	OMIM:223900	J:229459