Phenotypes associated with this allele

• Allele Symbol: Elp2^em2Bjw
• Allele Name: endonuclease-mediated mutation 2, Brandon J Wainwright
• Allele ID: MGI:6715576
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Elp2^em2Bjw/Elp2^em2Bjw	involves: C57BL/6	MGI:6754173
hm2	Elp2^em2Bjw/Elp2^em2Bjw	involves: C57BL/6 * DBA/2J	MGI:6754175
ht3	Elp2^em1Bjw/Elp2^em2Bjw	involves: C57BL/6	MGI:6754166
ht4	Elp2^em2Bjw/Elp2^em3Bjw	involves: C57BL/6	MGI:6754172
ht5	Elp2^em2Bjw/Elp2^em3Bjw	involves: C57BL/6 * DBA/2J	MGI:6754183

Genotype
MGI:6754173

hm1

• Allelic Composition: Elp2^em2Bjw/Elp2^em2Bjw
• Genetic Background: involves: C57BL/6

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

mortality/aging

lethality at weaning, complete penetrance ( J:306113 )

• lethality around P21

growth/size/body

decreased body weight ( J:306113 )

• P21 mice exhibit a decrease in body weight

microcephaly ( J:306113 )

• brain to body weight ratio is decreased, indicating microcephaly

decreased body length ( J:306113 )

• P21 mice exhibit a decrease in body length

postnatal growth retardation ( J:306113 )

• developmental delay characterized by reduced body size and weight

behavior/neurological

increased grooming behavior ( J:306113 )

• increase in self-grooming time and number of grooming bouts

limb grasping ( J:306113 )

tremors ( J:306113 )

decreased grip strength ( J:306113 )

abnormal gait ( J:306113 )

• mice exhibit severe motor defects

nervous system

abnormal anterior commissure morphology ( J:306113 )

• anterior commissure volume is increased in P21-23 mice

abnormal brain internal capsule morphology ( J:306113 )

• internal capsule volume is decreased in P21-23 mice

abnormal forebrain morphology ( J:306113 )

• basal forebrain septum volume is increased in P21-23 mice

abnormal hypothalamus morphology ( J:306113 )

• hypothalamus volume is increased in P21-23 mice

decreased neocortex volume ( J:306113 )

• neocortex volume is decreased in P21-23 mice

muscle

hypotonia ( J:306113 )

• decrease in limb tone

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:306113
intellectual disability		DOID:1059		J:306113

Genotype
MGI:6754175

hm2

• Allelic Composition: Elp2^em2Bjw/Elp2^em2Bjw
• Genetic Background: involves: C57BL/6 * DBA/2J

mortality/aging

premature death ( J:306113 )

• lifespan is to P120

growth/size/body

decreased body weight ( J:306113 )

microcephaly ( J:306113 )

decreased body length ( J:306113 )

postnatal growth retardation ( J:306113 )

• developmental delay characterized by reduced body size and weight

behavior/neurological

increased grooming behavior ( J:306113 )

• mice show an increase in self-grooming time and number of self-grooming bouts

limb grasping ( J:306113 )

tremors ( J:306113 )

decreased grip strength ( J:306113 )

abnormal gait ( J:306113 )

• mice exhibit motor defects

decreased vocalization ( J:306113 )

• mice exhibit reduced number and duration of ultrasonic calls

nervous system

abnormal neuron differentiation ( J:306113 )

• reduction in post-mitotic neurons relative to apical progenitors and a decreased number of newborn intermediate progenitors, suggests a failure of apical progenitors to switch towards neuron generation

• a greater proportion of neural progenitors exit the cell cycle in the brains of embryos compared to control embryos

• neural progenitors isolated from developing cortices form fewer neurospheres and smaller neural neurospheres, indicating reduced self-renewal capacity

abnormal cortical plate morphology ( J:306113 )

• the number of post-mitotic neurons comprising the cortical plate is reduced at E14.5

abnormal brain interneuron morphology ( J:306113 )

• 2-month-old mice show a decrease in cortical and hippocampal parvalbumin (PV)-expressing interneurons

abnormal brain white matter morphology ( J:306113 )

• reduction in white matter and cortical volume

abnormal brain commissure morphology ( J:306113 )

• aberrant organization and composition of the main cortical tracts; the hippocampal commissure and anterior commissure and internal capsules show reduced fractional anisotropy, while the axial diffusivity is not altered, and radial diffusivity is increased across all cortical tracts

• connectome profiling shows a hyperconnectivity across long- and short-range connections in the brains, predominately in structures within the limbic system, the salience network, and the cerebellum

• brains exhibit decreased connectivity throughout nodes of the default mode network and corpus callosum; corpus callosum is severely affected, including its midline and peripheral sections towards the external capsule

abnormal somatosensory cortex morphology ( J:306113 )

• somatosensory cortex shows a decrease in both the upper and deep cortical layers

thin cerebral cortex ( J:306113 )

• fetuses (E14.5) show reduced thickness of the cerebral cortex which persists in neonatal (P7) and adult (2 months of age) mice

Purkinje cell degeneration ( J:306113 )

• massive Purkinje neuron degeneration in the cerebella

cerebellum atrophy ( J:306113 )

abnormal dendrite morphology ( J:306113 )

• cortical projection neurons show a severe decrease in total dendritic length, and fewer intersections in concentric circles of increasing radius indicating a branching defect

decreased dendritic spine density ( J:306113 )

• cortical neurons show reduced spine density along dendrites

decreased neuronal precursor cell number ( J:306113 )

• apical progenitors in the ventricular zone, intermediate progenitors in the sub-ventricular zone and post-mitotic neurons comprising the cortical plate are all reduced in number at E14.5

muscle

hypotonia ( J:306113 )

• decrease in limb tone

cellular

abnormal neuron differentiation ( J:306113 )

• reduction in post-mitotic neurons relative to apical progenitors and a decreased number of newborn intermediate progenitors, suggests a failure of apical progenitors to switch towards neuron generation

• a greater proportion of neural progenitors exit the cell cycle in the brains of embryos compared to control embryos

• neural progenitors isolated from developing cortices form fewer neurospheres and smaller neural neurospheres, indicating reduced self-renewal capacity

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:306113
intellectual disability		DOID:1059		J:306113

Genotype
MGI:6754166

ht3

• Allelic Composition: Elp2^em1Bjw/Elp2^em2Bjw
• Genetic Background: involves: C57BL/6

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:306113 )

• no mutant mice ae seen at 16-17 dpc

embryonic lethality during organogenesis, incomplete penetrance ( J:306113 )

• fewer than the expected numbers are seen at 9-10 dpc and 14-15 dpc

growth/size/body

decreased fetal size ( J:306113 )

• smaller at E14.5

Genotype
MGI:6754172

ht4

• Allelic Composition: Elp2^em2Bjw/Elp2^em3Bjw
• Genetic Background: involves: C57BL/6

mortality/aging

lethality during fetal growth through weaning, complete penetrance ( J:306113 )

• fewer than the expected numbers start to be seen at 16-17 dpc and 18.5 dpc, with no pups seen at weaning

growth/size/body

decreased fetal size ( J:306113 )

• fetuses are smaller at E14.5, E16.5, and E18.5

cardiovascular system

hemorrhage ( J:306113 )

• hemorrhaging is seen at 16.5 dpc and 18.5 dpc

Genotype
MGI:6754183

ht5

• Allelic Composition: Elp2^em2Bjw/Elp2^em3Bjw
• Genetic Background: involves: C57BL/6 * DBA/2J

mortality/aging

premature death ( J:306113 )

• lifespan is to P60

growth/size/body

decreased body weight ( J:306113 )

microcephaly ( J:306113 )

• brain to body weight ratio is decreased, indicating microcephaly

decreased body length ( J:306113 )

behavior/neurological

increased grooming behavior ( J:306113 )

• mice show an increase in self-grooming time and number of self-grooming bouts

limb grasping ( J:306113 )

tremors ( J:306113 )

decreased grip strength ( J:306113 )

abnormal gait ( J:306113 )

• mice exhibit motor defects

decreased vocalization ( J:306113 )

• mice exhibit reduced number and duration of ultrasonic calls

nervous system

Purkinje cell degeneration ( J:306113 )

• Purkinje neuron degeneration in the cerebella

cerebellum atrophy ( J:306113 )

• cerebellar atrophy

muscle

hypotonia ( J:306113 )

• decrease in limb tone

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:306113
intellectual disability		DOID:1059		J:306113