All Phenotypes Neurod4<tm1Kag> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Neurod4^tm1Kag
targeted mutation 1, Ryoichiro Kageyama
MGI:2158737

Summary

8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Neurod4^tm1Kag/Neurod4^tm1Kag	involves: C57BL/6 * CBA * CD-1	MGI:3505579
cx2	Ascl1^tm1And/Ascl1^tm1And Neurod4^tm1Kag/Neurod4^tm1Kag	either: (involves: 129S2/SvPas * C57BL/6 * CBA) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA)	MGI:3505584
cx3	Neurod4^tm1Kag/Neurod4^tm1Kag Neurog2^tm1Fgu/Neurog2^tm1Fgu	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * ICR	MGI:4420921
cx4	Neurod1^tm1Jle/Neurod1^tm1Jle Neurod4^tm1Kag/Neurod4^tm1Kag	involves: 129S4/SvJaeSor * C57BL/6 * CBA * ICR	MGI:3505580
cx5	Ascl1^tm1And/Ascl1^tm1And Neurod4^tm1Kag/Neurod4^tm1Kag	involves: 129/Sv * C57BL/6 * CBA * ICR	MGI:4420919
cx6	Ascl1^tm1And/Ascl1^tm1And Neurod1^tm1Jle/Neurod1^tm1Jle Neurod4^tm1Kag/Neurod4^tm1Kag	involves: 129/Sv * C57BL/6 * CBA * ICR	MGI:4420916
cx7	Ascl1^tm1And/Ascl1^tm1And Neurod4^tm1Kag/Neurod4^tm1Kag Neurog2^tm1Fgu/Neurog2^tm1Fgu	involves: 129/Sv * C57BL/6 * CBA * ICR	MGI:4420915
cx8	Neurod1^tm1Jle/Neurod1^tm1Jle Neurod4^tm1Kag/Neurod4^tm1Kag Neurog2^tm1Fgu/Neurog2^tm1Fgu	involves: 129/Sv * C57BL/6 * CBA * ICR	MGI:4420913

Allelic Composition	Neurod4^tm1Kag/Neurod4^tm1Kag
Genetic Background	involves: C57BL/6 * CBA * CD-1

Find Mice

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

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

mortality/aging

premature death ( J:65410 )

• approximately 50% of homozygotes survive to adulthood but die within 1 year of age

postnatal lethality, incomplete penetrance ( J:65410 )

• over 40% of homozygotes die by 3 weeks of age partly because of a drinking anomaly

behavior/neurological

abnormal drinking behavior ( J:65410 )

• approximately 40% of homozygotes fail to drink milk efficiently and die prior to weaning

ataxia ( J:65410 )

• homozygotes become ataxic as early as 1 week after birth

impaired balance ( J:65410 )

• when placed on a rod, homozygotes fail to remain balanced for >9-10 minutes, whereas wild-type mice stay balanced for ~34 minutes

growth/size/body

decreased body weight ( J:65410 )

• surviving homozygotes display a 40% reduction in body weight relative to wild-type mice

postnatal growth retardation ( J:65410 )

• homozygotes exhibit a progressive growth retardation

nervous system

abnormal cerebellar lobule formation ( J:65410 )

• at P7 and in adulthood, homozygotes exhibit poor lobule formation; the posterior region is more severely affected

abnormal cerebellum external granule cell layer morphology ( J:65410 )

• in the mutant EGL, many precursor cells are TUNEL-positive, indicating cell death

thin cerebellar granule layer ( J:65410 )

thin cerebellar molecular layer ( J:65410 )

absent cerebellar lobules ( J:65410 )

• at P7 and in adulthood, some cerebellar lobules are missing

small cerebellum ( J:65410 )

• at E17.5, the cerebellar anlage of homozygotes contains an EGL and appears normal

• at P7 and in adulthood, the mutant cerebellum size is reduced relative to wild-type; however, no other CNS defects are observed

Allelic Composition	Ascl1^tm1And/Ascl1^tm1And Neurod4^tm1Kag/Neurod4^tm1Kag
Genetic Background	either: (involves: 129S2/SvPas * C57BL/6 * CBA) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ascl1^tm1And mutation (1 available); any Ascl1 mutation (28 available)
Neurod4^tm1Kag mutation (1 available); any Neurod4 mutation (24 available)

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:65410 )

• double homozygous mutant embryos die between E15.5 and E17.5

vision/eye

abnormal Muller cell morphology ( J:65410 )

• retinal explant cultures from double homozygotes exhibit a significant increase in the number of Muller glia cells

• in addition, retinal explants from double homozygotes show ectopic generation of Muller cells, suggesting a fate switch from neurons to glial cells

• other cell types including rods and amacrine cells remain unaffected

absent retina bipolar cells ( J:65410 )

• after 2 weeks of culture, retinal explants derived from E15.5 double homozygotes show a complete loss of retinal bipolar cells, without significant apoptosis

nervous system

abnormal neuron differentiation ( J:65410 )

• at E10.5, double homozygotes display loss of neurons and concomitant gliogenesis in the tectum, hindbrain and retina

• at E11.5, double homozygotes show a complete absence of neurons in the midbrain, and very few neurons in the two longitudinal columns of the hindbrain

• neuronal loss occurs in the absence of abnormal proliferation or apoptosis, suggesting a fate switch from neurons to glial cells

abnormal tectum morphology ( J:65410 )

• the double mutant tectum consists of only the ventricular zone; the mantle layer is absent

• at E15.5, the ventricular cells adopt a glial fate instead of differentiating into neurons

small tectum ( J:65410 )

• in double homozygotes, the tectum is significantly thinner and devoid of neurons

abnormal Muller cell morphology ( J:65410 )

• retinal explant cultures from double homozygotes exhibit a significant increase in the number of Muller glia cells

• in addition, retinal explants from double homozygotes show ectopic generation of Muller cells, suggesting a fate switch from neurons to glial cells

• other cell types including rods and amacrine cells remain unaffected

absent retina bipolar cells ( J:65410 )

• after 2 weeks of culture, retinal explants derived from E15.5 double homozygotes show a complete loss of retinal bipolar cells, without significant apoptosis

cellular

abnormal neuron differentiation ( J:65410 )

• at E10.5, double homozygotes display loss of neurons and concomitant gliogenesis in the tectum, hindbrain and retina

• at E11.5, double homozygotes show a complete absence of neurons in the midbrain, and very few neurons in the two longitudinal columns of the hindbrain

• neuronal loss occurs in the absence of abnormal proliferation or apoptosis, suggesting a fate switch from neurons to glial cells

Allelic Composition	Neurod4^tm1Kag/Neurod4^tm1Kag Neurog2^tm1Fgu/Neurog2^tm1Fgu
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * ICR

Find Mice

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

nervous system

decreased retina photoreceptor cell number ( J:121047 )

• normal number of horizontal cells

vision/eye

decreased retina photoreceptor cell number ( J:121047 )

• normal number of horizontal cells

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 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 )

vision/eye

vision/eye phenotype ( J:121047 )

N	• normal number of horizontal cells

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

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)
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 )

• 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	Ascl1^tm1And/Ascl1^tm1And 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 of Muller cells in the inner nuclear layer

decreased amacrine cell number ( J:121047 )

• in the inner nuclear layer

increased retina ganglion cell number ( J:121047 )

abnormal retina bipolar cell morphology ( J:121047 )

• fewer bipolar cells in the inner nuclear layer

abnormal retina horizontal cell morphology ( J:121047 )

• fewer horizontal cells in the inner nuclear layer

vision/eye

abnormal Muller cell morphology ( J:121047 )

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

decreased amacrine cell number ( J:121047 )

• in the inner nuclear layer

abnormal retina bipolar cell morphology ( J:121047 )

• fewer bipolar cells in the inner nuclear layer

abnormal retina horizontal cell morphology ( J:121047 )

• fewer horizontal cells in the inner nuclear layer

abnormal retina layer morphology ( J:121047 )

increased retina ganglion cell number ( J:121047 )

abnormal retina inner nuclear layer morphology ( J:121047 )

• fewer amacrine, horizontal and bipolar cells

• increase in Muller glial cells

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

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