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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Neurod1tm1Jle
targeted mutation 1, Jacqueline E Lee
MGI:2385826
Summary 8 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Neurod1tm1Jle/Neurod1tm1Jle involves: 129S4/SvJaeSor * C57BL/6 MGI:3057125
hm2
Neurod1tm1Jle/Neurod1tm1Jle involves: 129S4/SvJaeSor * ICR MGI:4420917
cx3
Ascl1tm1And/Ascl1tm1And
Neurod1tm1Jle/Neurod1tm1Jle
either: (involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * ICR) or (involves: 129S2/SvPas * 129S4/SvJaeSor * ICR) MGI:4420920
cx4
Neurod1tm1Jle/Neurod1tm1Jle
Neurog2tm1Fgu/Neurog2tm1Fgu
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ MGI:4420922
cx5
Neurod1tm1Jle/Neurod1tm1Jle
Tg(RIP1-Neurod1)1Jle/0
involves: 129S4/SvJaeSor * C57BL/6 * CBA MGI:3497709
cx6
Neurod1tm1Jle/Neurod1tm1Jle
Neurod4tm1Kag/Neurod4tm1Kag
involves: 129S4/SvJaeSor * C57BL/6 * CBA * ICR MGI:3505580
cx7
Ascl1tm1And/Ascl1tm1And
Neurod1tm1Jle/Neurod1tm1Jle
Neurod4tm1Kag/Neurod4tm1Kag
involves: 129/Sv * C57BL/6 * CBA * ICR MGI:4420916
cx8
Neurod1tm1Jle/Neurod1tm1Jle
Neurod4tm1Kag/Neurod4tm1Kag
Neurog2tm1Fgu/Neurog2tm1Fgu
involves: 129/Sv * C57BL/6 * CBA * ICR MGI:4420913


Genotype
MGI:3057125
hm1
Allelic
Composition
Neurod1tm1Jle/Neurod1tm1Jle
Genetic
Background
involves: 129S4/SvJaeSor * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Neurod1tm1Jle mutation (1 available); any Neurod1 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes die within 5 days after birth due neonatal diabetes

homeostasis/metabolism
• homozygotes become severely diabetic soon after birth

vision/eye
• a subset of photoreceptors in mutant retinal explants undergo apoptosis after 12 days of culture
• after 12 days of culture, explants initiated from mutant retinal tissue at P0 (before the onset of hyperglycemia) show a 3-to 4-fold increase of Muller glia in the inner nuclear layer
• ectopic Muller cell bodies are occasionally noted in the outer nuclear layer
• retinal explant cultures exhibit delayed amacrine cell differentiation
• in contrast, the initial stages of cone, rod and Muller cell differentiation appear unaffected
• notably, the number of amacrine cells reaches normal levels after 12 days in culture
• retinal explant cultures exhibit a 2-fold increase in bipolar cell differentiation
• notably, overpresentation of bipolar neurons in mutant retina appears to be dependent on gene dosage

nervous system
• after 12 days of culture, explants initiated from mutant retinal tissue at P0 (before the onset of hyperglycemia) show a 3-to 4-fold increase of Muller glia in the inner nuclear layer
• ectopic Muller cell bodies are occasionally noted in the outer nuclear layer
• retinal explant cultures exhibit delayed amacrine cell differentiation
• in contrast, the initial stages of cone, rod and Muller cell differentiation appear unaffected
• notably, the number of amacrine cells reaches normal levels after 12 days in culture
• retinal explant cultures exhibit a 2-fold increase in bipolar cell differentiation
• notably, overpresentation of bipolar neurons in mutant retina appears to be dependent on gene dosage

cellular
• a subset of photoreceptors in mutant retinal explants undergo apoptosis after 12 days of culture




Genotype
MGI:4420917
hm2
Allelic
Composition
Neurod1tm1Jle/Neurod1tm1Jle
Genetic
Background
involves: 129S4/SvJaeSor * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Neurod1tm1Jle mutation (1 available); any Neurod1 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• cell death is increased slightly

cellular
• cell death is increased slightly




Genotype
MGI:4420920
cx3
Allelic
Composition
Ascl1tm1And/Ascl1tm1And
Neurod1tm1Jle/Neurod1tm1Jle
Genetic
Background
either: (involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * ICR) or (involves: 129S2/SvPas * 129S4/SvJaeSor * ICR)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ascl1tm1And mutation (1 available); any Ascl1 mutation (28 available)
Neurod1tm1Jle mutation (1 available); any Neurod1 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

nervous system
• decrease is not greater than that in Neurod1tm1Jle single homozygotes

vision/eye
N
• normal number of horizontal cells
• decrease is not greater than that in Neurod1tm1Jle single homozygotes




Genotype
MGI:4420922
cx4
Allelic
Composition
Neurod1tm1Jle/Neurod1tm1Jle
Neurog2tm1Fgu/Neurog2tm1Fgu
Genetic
Background
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Neurod1tm1Jle mutation (1 available); any Neurod1 mutation (29 available)
Neurog2tm1Fgu mutation (0 available); any Neurog2 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

vision/eye
N
• normal number of horizontal cells
• decrease is not greater than that in Neurod1tm1Jle single homozygotes

nervous system
• decrease is not greater than that in Neurod1tm1Jle single homozygotes




Genotype
MGI:3497709
cx5
Allelic
Composition
Neurod1tm1Jle/Neurod1tm1Jle
Tg(RIP1-Neurod1)1Jle/0
Genetic
Background
involves: 129S4/SvJaeSor * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Neurod1tm1Jle mutation (1 available); any Neurod1 mutation (29 available)
Tg(RIP1-Neurod1)1Jle mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• while awake, rescued mice walk continuously without pausing or resting
• surviving ND-/-Tg mice begin to display an ataxic gait as early as P13
• rescued mice fail to balance themselves and fall down 8-10 times per minute while waliking
• when placed on a 3 cm-wide platform, rescued mice fall over, whereas control transgenic mice stay balanced for >5 min

growth/size/body
• at P30, ND-/-Tg mice show a significant reduction in body weight relative to control transgenic mice
• rescued mice (ND-/-Tg) survive to adulthood but exhibit a slower growth rate compared to control transgenic mice

hearing/vestibular/ear
N
• homozygotes display normal differentiation of hair cells in the entire sensory epithelium
• no ultrastructural changes are detected in mutant semicircular canal hairs
• at P0, the volume of the modiolus and the radius of the mutant cochlea are severely reduced
• in homozygotes, the cochlear sensory epithelium appears to be shorther than normal
• vestibular sensory epithelia show a variable degree of innervation by both afferent and efferent fibers
• inner ears show an anterior to posterior gradient of fiber loss, with the posterior vertical semicircular canal being most affected and the anterior vertical canal relatively unaffected
• the density of fibers in the saccule and utricle is only slightly reduced relative to wild-type
• homozygotes exhibit normal somatosensory evoked potentials but completely lack auditory evoked potentials

nervous system
• rescued ND-/-Tg mice display impaired postnatal neurogenesis due to a neuronal deficit in the granule layers of the cerebellum and hippocampus
• vestibular sensory epithelia show a variable degree of innervation by both afferent and efferent fibers
• inner ears show an anterior to posterior gradient of fiber loss, with the posterior vertical semicircular canal being most affected and the anterior vertical canal relatively unaffected
• the density of fibers in the saccule and utricle is only slightly reduced relative to wild-type
• at P30, all major cerebellar lobules are identifiable but show a shallow foliation pattern
• at P6, the cerebellum of rescued mice shows reduced EGL thickness in the posterior lobules
• at P6, anterior lobules contain the normal 8- to 10-cell thick layer of EGL, whereeas posterior lobules have a thinner EGL of only 4- to 5-cell thickness
• at P0, numerous apoptotic cells are detected in the posterior lobules of cerebellar cortex in the inner EGL
• at P30, brains of ND-/-Tg mice lack a recognizable dentate gyrus
• the absence of DG formation becomes apparent as early as E18.5
• in contrast, formation of the Ammon's horn remains unaffected
• at P30, Purkinje cells display an abnormal arrangement in the posterior lobules of the cerebellum and fail to form a monolayer
• little variation in the number of Purkinje cells is observed along the anteroposterior (A-P) axis
• at P30, ND-/-Tg mice exhibit a slight decrease in cerebellar Purkinje cell number
• at P30, numerous apoptotic cells are detected the remaining anterior IGL cells; however, at P88, ~5%-10% of granule cells are still detectable in the anterior cerebellum
• at P30, ND-/-Tg mice show a 30%-40% reduction in the size of the cerebellum
• the overall size reduction becomes evident at P2
• in contrast, the size of the cerebrum and olfactory bulbs appears normal
• homozygotes show a significant reduction in the number of vestibulocochlear ganglion cells as early as E10.5
• homozygotes exhibit a severe depletion of inner ear sensory neurons during development
• neuronal loss and the pattern of remaining sensory neurons and afferent innervation reach their final configuration by E14.5
• surviving vestibular and spiral sensory neurons persist up to 9 months of age
• by E14.5, the spiral (cochlear) ganglion is almost absent
• at P0, most of the surviving spiral ganglion cells are abnormally located in the middle turn of the cochlea, inside or close to the modiolus
• homozygotes display a high degree of variation in the density of the remaining afferent and efferent fibers
• at P0, the volume of mutant vestibular ganglia is significantly decreased
• at P0, mutant vestibular ganglia display a migration defect and are mislocated inside the otic capsule

cellular
• rescued ND-/-Tg mice display impaired postnatal neurogenesis due to a neuronal deficit in the granule layers of the cerebellum and hippocampus




Genotype
MGI:3505580
cx6
Allelic
Composition
Neurod1tm1Jle/Neurod1tm1Jle
Neurod4tm1Kag/Neurod4tm1Kag
Genetic
Background
involves: 129S4/SvJaeSor * C57BL/6 * CBA * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Neurod1tm1Jle mutation (1 available); any Neurod1 mutation (29 available)
Neurod4tm1Kag mutation (1 available); any Neurod4 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

vision/eye
N
• normal number of horizontal cells
• retinal explant cultures from double homozygotes show a modest increase in the number of Muller glial cells
• in contrast, bipolar and horizontal cells are normally generated
• retinal explant cultures from double homozygotes exhibit complete loss of amacrine cells, in the absence of significant cell death
• notably, the total number of inner nuclear layer cells and ganglion cell layer cells remains unaffected
• evidence suggests that cells that fail to differentiate into amacrine cells adopt the ganglion and Muller glial cell fates
• decrease is not greater than that in Neurod1tm1Jle single homozygotes
• at E17.5, optic nerves obtained from double homozygotes show a 1.7-fold increase in thickness relative to wild-type
• in wild-type retinas, about 60% of the GCL cells are displaced amacrine cells and the others are ganglion cells; in the double-mutant retina, all of the GCL cells are ganglion cells
• retinal explant cultures from double homozygotes show a significant increase in ganglion cells
• in addition, ectopic ganglion cells are found in the inner region of the INL of double mutant retina

nervous system
• in contrast, bipolar and horizontal cells are normally generated
• retinal explant cultures from double homozygotes show a modest increase in the number of Muller glial cells
• retinal explant cultures from double homozygotes exhibit complete loss of amacrine cells, in the absence of significant cell death
• notably, the total number of inner nuclear layer cells and ganglion cell layer cells remains unaffected
• evidence suggests that cells that fail to differentiate into amacrine cells adopt the ganglion and Muller glial cell fates
• decrease is not greater than that in Neurod1tm1Jle single homozygotes
• retinal explant cultures from double homozygotes show a significant increase in ganglion cells
• in addition, ectopic ganglion cells are found in the inner region of the INL of double mutant retina
• at E17.5, optic nerves obtained from double homozygotes show a 1.7-fold increase in thickness relative to wild-type




Genotype
MGI:4420916
cx7
Allelic
Composition
Ascl1tm1And/Ascl1tm1And
Neurod1tm1Jle/Neurod1tm1Jle
Neurod4tm1Kag/Neurod4tm1Kag
Genetic
Background
involves: 129/Sv * C57BL/6 * CBA * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ascl1tm1And mutation (1 available); any Ascl1 mutation (28 available)
Neurod1tm1Jle mutation (1 available); any Neurod1 mutation (29 available)
Neurod4tm1Kag mutation (1 available); any Neurod4 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

nervous system
• increase in the number of Muller cells in the inner nuclear layer
• about 1/3 the number of photoreceptors
• very few bipolar cells in the inner nuclear layer

vision/eye
• cell death was increased slightly
• increase in the number of Muller cells in the inner nuclear layer
• very few bipolar cells in the inner nuclear layer
• about 1/3 the number of photoreceptors
• very few bipolar cells, increased Muller cells
• but almost normal numbers of amacrine and horizontal

cellular
• cell death was increased slightly




Genotype
MGI:4420913
cx8
Allelic
Composition
Neurod1tm1Jle/Neurod1tm1Jle
Neurod4tm1Kag/Neurod4tm1Kag
Neurog2tm1Fgu/Neurog2tm1Fgu
Genetic
Background
involves: 129/Sv * C57BL/6 * CBA * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Neurod1tm1Jle mutation (1 available); any Neurod1 mutation (29 available)
Neurod4tm1Kag mutation (1 available); any Neurod4 mutation (24 available)
Neurog2tm1Fgu mutation (0 available); any Neurog2 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

nervous system
• increase in the number cells and the cell bodies are scattered throughout the outer layer indicating an impairment in cell migration
• virtually no bipolar cells
• virtually no horizontal cells

vision/eye
• TUNEL+ cells are increased in the photoreceptor layer after more than 4 days in culture
• increase in the number cells and the cell bodies are scattered throughout the outer layer indicating an impairment in cell migration
• virtually no bipolar cells
• virtually no horizontal cells
• at E17.5, the retina consists of only 2 cellular layers rather than the normal 3 layers
• fusion of the inner nuclear layer and outer nuclear layer
• most cells are rods with some amacrine and Mueller cells also present
• Muller glial cell bodies are scattered throughout the outer layer indicating an impairment in cell migration
• the inner boundary of the photoreceptor layer is irregular, indicating that the arrangement of photoreceptors is disorganized the inner boundary of the photoreceptor layer is irregular, indicating that the arrangement of photoreceptors is disorganized
• the inner boundary of the photoreceptor layer is irregular, indicating that the arrangement of photoreceptors is disorganized

cellular
• TUNEL+ cells are increased in the photoreceptor layer after more than 4 days in culture





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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory