All Phenotypes Neurod1<tm1Jle> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Neurod1^tm1Jle/Neurod1^tm1Jle	involves: 129S4/SvJaeSor * C57BL/6	MGI:3057125
hm2	Neurod1^tm1Jle/Neurod1^tm1Jle	involves: 129S4/SvJaeSor * ICR	MGI:4420917
cx3	Ascl1^tm1And/Ascl1^tm1And Neurod1^tm1Jle/Neurod1^tm1Jle	either: (involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * ICR) or (involves: 129S2/SvPas * 129S4/SvJaeSor * ICR)	MGI:4420920
cx4	Neurod1^tm1Jle/Neurod1^tm1Jle Neurog2^tm1Fgu/Neurog2^tm1Fgu	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ	MGI:4420922
cx5	Neurod1^tm1Jle/Neurod1^tm1Jle Tg(RIP1-Neurod1)1Jle/0	involves: 129S4/SvJaeSor * C57BL/6 * CBA	MGI:3497709
cx6	Neurod1^tm1Jle/Neurod1^tm1Jle Neurod4^tm1Kag/Neurod4^tm1Kag	involves: 129S4/SvJaeSor * C57BL/6 * CBA * ICR	MGI:3505580
cx7	Ascl1^tm1And/Ascl1^tm1And Neurod1^tm1Jle/Neurod1^tm1Jle Neurod4^tm1Kag/Neurod4^tm1Kag	involves: 129/Sv * C57BL/6 * CBA * ICR	MGI:4420916
cx8	Neurod1^tm1Jle/Neurod1^tm1Jle Neurod4^tm1Kag/Neurod4^tm1Kag Neurog2^tm1Fgu/Neurog2^tm1Fgu	involves: 129/Sv * C57BL/6 * CBA * ICR	MGI:4420913

Allelic Composition	Neurod1^tm1Jle/Neurod1^tm1Jle
Genetic Background	involves: 129S4/SvJaeSor * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Neurod1^tm1Jle mutation (1 available); any Neurod1 mutation (29 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:74715 )

• homozygotes die within 5 days after birth due neonatal diabetes

homeostasis/metabolism

hyperglycemia ( J:74715 )

• homozygotes become severely diabetic soon after birth

vision/eye

abnormal retina apoptosis ( J:51299 )

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

abnormal Muller cell morphology ( J:51299 )

• 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

abnormal amacrine cell morphology ( J:51299 )

• 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

abnormal retina bipolar cell morphology ( J:51299 )

• 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

abnormal Muller cell morphology ( J:51299 )

• 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

abnormal amacrine cell morphology ( J:51299 )

• 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

abnormal retina bipolar cell morphology ( J:51299 )

• 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

abnormal retina apoptosis ( J:51299 )

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

Allelic Composition	Neurod1^tm1Jle/Neurod1^tm1Jle
Genetic Background	involves: 129S4/SvJaeSor * ICR

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Neurod1^tm1Jle mutation (1 available); any Neurod1 mutation (29 available)

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

vision/eye

increased retina apoptosis ( J:121047 )

• cell death is increased slightly

cellular

increased retina apoptosis ( J:121047 )

• cell death is increased slightly

Allelic Composition	Ascl1^tm1And/Ascl1^tm1And Neurod1^tm1Jle/Neurod1^tm1Jle
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:
Ascl1^tm1And mutation (1 available); any Ascl1 mutation (28 available)
Neurod1^tm1Jle mutation (1 available); any Neurod1 mutation (29 available)

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

mortality/aging

perinatal lethality, complete penetrance ( J:121047 )

nervous system

decreased retina photoreceptor cell number ( J:121047 )

• decrease is not greater than that in Neurod1^tm1Jle single homozygotes

vision/eye

vision/eye phenotype ( J:121047 )

N	• normal number of horizontal cells

decreased retina photoreceptor cell number ( J:121047 )

• decrease is not greater than that in Neurod1^tm1Jle single homozygotes

Allelic Composition	Neurod1^tm1Jle/Neurod1^tm1Jle Neurog2^tm1Fgu/Neurog2^tm1Fgu
Genetic Background	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Neurod1^tm1Jle mutation (1 available); any Neurod1 mutation (29 available)
Neurog2^tm1Fgu mutation (0 available); any Neurog2 mutation (18 available)

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

mortality/aging

perinatal lethality, complete penetrance ( J:121047 )

vision/eye

vision/eye phenotype ( J:121047 )

N	• normal number of horizontal cells

decreased retina photoreceptor cell number ( J:121047 )

• decrease is not greater than that in Neurod1^tm1Jle single homozygotes

nervous system

decreased retina photoreceptor cell number ( J:121047 )

• decrease is not greater than that in Neurod1^tm1Jle single homozygotes

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

behavior/neurological

abnormal motor coordination/balance ( J:74715 )

• while awake, rescued mice walk continuously without pausing or resting

ataxia ( J:74715 )

• surviving ND-/-Tg mice begin to display an ataxic gait as early as P13

impaired balance ( J:74715 )

• 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

decreased body weight ( J:74715 )

• at P30, ND-/-Tg mice show a significant reduction in body weight relative to control transgenic mice

postnatal growth retardation ( J:74715 )

• rescued mice (ND-/-Tg) survive to adulthood but exhibit a slower growth rate compared to control transgenic mice

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:66787 )

N	• homozygotes display normal differentiation of hair cells in the entire sensory epithelium • no ultrastructural changes are detected in mutant semicircular canal hairs

reduced cochlear modiolus ( J:66787 )

• at P0, the volume of the modiolus and the radius of the mutant cochlea are severely reduced

abnormal cochlear sensory epithelium morphology ( J:66787 )

• in homozygotes, the cochlear sensory epithelium appears to be shorther than normal

abnormal inner ear vestibular sensory neuron innervation pattern ( J:66787 )

• 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

absent endocochlear potential ( J:66787 )

• homozygotes exhibit normal somatosensory evoked potentials but completely lack auditory evoked potentials

deafness ( J:66787 )

nervous system

abnormal neuron differentiation ( J:74715 )

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

abnormal inner ear vestibular sensory neuron innervation pattern ( J:66787 )

• 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

abnormal cerebellar foliation ( J:74715 )

• at P30, all major cerebellar lobules are identifiable but show a shallow foliation pattern

thin external granule cell layer ( J:74715 )

• 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

absent dentate gyrus ( J:74715 )

• 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

abnormal Purkinje cell morphology ( J:74715 )

• 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

decreased Purkinje cell number ( J:74715 )

• at P30, ND-/-Tg mice exhibit a slight decrease in cerebellar Purkinje cell number

abnormal cerebellar granule layer morphology ( J:74715 )

• 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

small cerebellum ( J:74715 )

• 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

abnormal vestibulocochlear ganglion morphology ( J:66787 )

• homozygotes show a significant reduction in the number of vestibulocochlear ganglion cells as early as E10.5

decreased sensory neuron number ( J:66787 )

• 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

absent cochlear ganglion ( J:66787 )

• 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

abnormal vestibular ganglion morphology ( J:66787 )

• 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

abnormal neuron differentiation ( J:74715 )

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

Allelic Composition	Neurod1^tm1Jle/Neurod1^tm1Jle Neurod4^tm1Kag/Neurod4^tm1Kag
Genetic Background	involves: 129S4/SvJaeSor * C57BL/6 * CBA * ICR

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Neurod1^tm1Jle mutation (1 available); any Neurod1 mutation (29 available)
Neurod4^tm1Kag mutation (1 available); any Neurod4 mutation (24 available)

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

mortality/aging

perinatal lethality, complete penetrance ( J:121047 )

vision/eye

vision/eye phenotype ( J:121047 )

N	• normal number of horizontal cells

abnormal Muller cell morphology ( J:74573 )

• 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

absent amacrine cells ( J:74573 )

• 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

decreased retina photoreceptor cell number ( J:121047 )

• decrease is not greater than that in Neurod1^tm1Jle single homozygotes

abnormal optic nerve morphology ( J:74573 )

• at E17.5, optic nerves obtained from double homozygotes show a 1.7-fold increase in thickness relative to wild-type

abnormal retina ganglion layer morphology ( J:74573 )

• 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

increased retina ganglion cell number ( J:74573 )

• 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

abnormal Muller cell morphology ( J:74573 )

• 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

absent amacrine cells ( J:74573 )

• 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

decreased retina photoreceptor cell number ( J:121047 )

• decrease is not greater than that in Neurod1^tm1Jle single homozygotes

increased retina ganglion cell number ( J:74573 )

• 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

abnormal optic nerve morphology ( J:74573 )

• at E17.5, optic nerves obtained from double homozygotes show a 1.7-fold increase in thickness relative to wild-type

Allelic Composition	Ascl1^tm1And/Ascl1^tm1And Neurod1^tm1Jle/Neurod1^tm1Jle Neurod4^tm1Kag/Neurod4^tm1Kag
Genetic Background	involves: 129/Sv * C57BL/6 * CBA * ICR

Find Mice

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

mortality/aging

perinatal lethality, complete penetrance ( J:121047 )

• most die around birth

nervous system

abnormal Muller cell morphology ( J:121047 )

• increase in the number of Muller cells in the inner nuclear layer

decreased retina photoreceptor cell number ( J:121047 )

• about 1/3 the number of photoreceptors

increased retina ganglion cell number ( J:121047 )

abnormal retina bipolar cell morphology ( J:121047 )

• very few bipolar cells in the inner nuclear layer

vision/eye

increased retina apoptosis ( J:121047 )

• cell death was increased slightly

abnormal Muller cell morphology ( J:121047 )

• increase in the number of Muller cells in the inner nuclear layer

abnormal retina bipolar cell morphology ( J:121047 )

• very few bipolar cells in the inner nuclear layer

abnormal retina layer morphology ( J:121047 )

decreased retina photoreceptor cell number ( J:121047 )

• about 1/3 the number of photoreceptors

increased retina ganglion cell number ( J:121047 )

abnormal retina inner nuclear layer morphology ( J:121047 )

• very few bipolar cells, increased Muller cells

• but almost normal numbers of amacrine and horizontal

cellular

increased retina apoptosis ( J:121047 )

• cell death was increased slightly

Allelic Composition	Neurod1^tm1Jle/Neurod1^tm1Jle Neurod4^tm1Kag/Neurod4^tm1Kag Neurog2^tm1Fgu/Neurog2^tm1Fgu
Genetic Background	involves: 129/Sv * C57BL/6 * CBA * ICR

Find Mice

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

mortality/aging

perinatal lethality, complete penetrance ( J:121047 )

• most die around birth

nervous system

abnormal Muller cell morphology ( J:121047 )

• increase in the number cells and the cell bodies are scattered throughout the outer layer indicating an impairment in cell migration

decreased amacrine cell number ( J:121047 )

decreased retina ganglion cell number ( J:121047 )

decreased retina photoreceptor cell number ( J:121047 )

decreased retina cone cell number ( J:121047 )

abnormal retina bipolar cell morphology ( J:121047 )

• virtually no bipolar cells

abnormal retina horizontal cell morphology ( J:121047 )

• virtually no horizontal cells

vision/eye

increased retina apoptosis ( J:121047 )

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

abnormal Muller cell morphology ( J:121047 )

• increase in the number cells and the cell bodies are scattered throughout the outer layer indicating an impairment in cell migration

decreased amacrine cell number ( J:121047 )

abnormal retina bipolar cell morphology ( J:121047 )

• virtually no bipolar cells

abnormal retina horizontal cell morphology ( J:121047 )

• virtually no horizontal cells

abnormal retina layer morphology ( J:121047 )

• at E17.5, the retina consists of only 2 cellular layers rather than the normal 3 layers

abnormal retina neuronal layer morphology ( J:121047 )

• fusion of the inner nuclear layer and outer nuclear layer

decreased retina ganglion cell number ( J:121047 )

abnormal retina inner nuclear layer morphology ( J:121047 )

thin retina inner nuclear layer ( J:121047 )

abnormal retina outer nuclear layer morphology ( J:121047 )

• 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

disorganized retina outer nuclear layer ( J:121047 )

• 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

abnormal retina photoreceptor layer morphology ( J:121047 )

• the inner boundary of the photoreceptor layer is irregular, indicating that the arrangement of photoreceptors is disorganized

decreased retina photoreceptor cell number ( J:121047 )

decreased retina cone cell number ( J:121047 )

cellular

increased retina apoptosis ( J:121047 )

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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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