All Phenotypes Sun1<tm1.1Ktj> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sun1^tm1.1Ktj/Sun1^tm1.1Ktj	involves: 129/Sv * C57BL/6 * C57BL/6N	MGI:5824543
hm2	Sun1^tm1.1Ktj/Sun1^tm1.1Ktj	involves: C57BL/6J * FVB/N	MGI:3838371
hm3	Sun1^tm1.1Ktj/Sun1^tm1.1Ktj	Not Specified	MGI:5490542
cx4	Sun1^tm1.1Ktj/Sun1^tm1.1Ktj Sun2^tm1.1Cyh/Sun2^tm1.1Cyh	involves: 129/Sv * C57BL/6 * C57BL/6N	MGI:5824545
cx5	Sun1^tm1.1Ktj/Sun1^tm1.1Ktj Sun2^tm1.1Cyh/Sun2⁺	involves: 129/Sv * C57BL/6 * C57BL/6N	MGI:5824546
cx6	Sun1^tm1.1Ktj/Sun1⁺ Sun2^tm1.1Cyh/Sun2^tm1.1Cyh	involves: 129/Sv * C57BL/6 * C57BL/6N	MGI:5824548

Allelic Composition	Sun1^tm1.1Ktj/Sun1^tm1.1Ktj
Genetic Background	involves: 129/Sv * C57BL/6 * C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sun1^tm1.1Ktj mutation (0 available); any Sun1 mutation (64 available)

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

behavior/neurological

ataxia ( J:224769 )

• mice exhibit cerebellar ataxia

impaired coordination ( J:224769 )

• at 3-4 months of age, the time to fall off the rotarod is significantly reduced relative to that in age-matched controls

nervous system

abnormal Purkinje cell migration ( J:224769 )

• ~33% of Purkinje cells fail to present at the surface of the internal granule layer (IGL), with lobules IV to VII showing the most severe reductions in Purkinje cell number

• however, proliferation and migration of granule neurons are unaffected

abnormal cerebellum development ( J:224769 )

• mice exhibit retarded cerebellum development relative to wild-type controls

abnormal cerebellar foliation ( J:224769 )

• at P0 and P4, neonates show abnormal cerebellar foliation

abnormal cerebellum external granule cell layer morphology ( J:224769 )

• an EGL layer is not observed at P30

decreased brain weight ( J:224769 )

• at >P50, average adult brain weight is significantly lower than that in wild-type controls

• however, average body weight is normal at 3-4 months of age

abnormal Purkinje cell morphology ( J:224769 )

• at P14, only ~14% of Syne2 is localized at the nuclear membrane of Purkinje cells relative to 44% in wild-type cells

ectopic Purkinje cell ( J:224769 )

• at P0, the positions of some Purkinje cells are superimposed with the inner granule neurons

• at P30, many Purkinje cells are found in the white matter of the cerebellum

absent cerebellum fissure ( J:224769 )

• at P30, the intercrural fissure between lobules VI and VII is absent

small cerebellum ( J:224769 )

• at P30, mice show a markedly smaller cerebellar size than wild-type controls

• adult mice show a 25% reduction in cerebellar volume relative to wild-type controls

• however, no differences in apoptosis or cell proliferation are seen in the developing cerebellum at P7

cellular

abnormal Purkinje cell migration ( J:224769 )

• ~33% of Purkinje cells fail to present at the surface of the internal granule layer (IGL), with lobules IV to VII showing the most severe reductions in Purkinje cell number

• however, proliferation and migration of granule neurons are unaffected

Allelic Composition	Sun1^tm1.1Ktj/Sun1^tm1.1Ktj
Genetic Background	involves: C57BL/6J * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sun1^tm1.1Ktj mutation (0 available); any Sun1 mutation (64 available)

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

reproductive system

absent oocytes ( J:146636 )

azoospermia ( J:146636 )

• no sperm are observed in the epididymides due to meiotic arrest and apoptosis

abnormal male meiosis ( J:146636 )

• meiotic chromosome synapsis are impaired compared to in wild-type mice

arrest of male meiosis ( J:146636 )

• at prophase of meiosis I

absent ovarian follicles ( J:146636 )

small testis ( J:146636 )

decreased testis weight ( J:146636 )

female infertility ( J:146636 )

male infertility ( J:146636 )

endocrine/exocrine glands

absent ovarian follicles ( J:146636 )

small testis ( J:146636 )

decreased testis weight ( J:146636 )

cellular

absent oocytes ( J:146636 )

azoospermia ( J:146636 )

• no sperm are observed in the epididymides due to meiotic arrest and apoptosis

abnormal male meiosis ( J:146636 )

• meiotic chromosome synapsis are impaired compared to in wild-type mice

arrest of male meiosis ( J:146636 )

• at prophase of meiosis I

Allelic Composition	Sun1^tm1.1Ktj/Sun1^tm1.1Ktj
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sun1^tm1.1Ktj mutation (0 available); any Sun1 mutation (64 available)

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

reproductive system

abnormal male meiosis ( J:194067 )

• male germ cells lack double strand breaks and are defective recombination and synapsis

• preleptotene pairing is impaired

behavior/neurological

ataxia ( J:224769 )

• long-term follow up revealed ataxic movements in many mice, suggesting cerebellar dysfunction

cellular

abnormal male meiosis ( J:194067 )

• male germ cells lack double strand breaks and are defective recombination and synapsis

• preleptotene pairing is impaired

Allelic Composition	Sun1^tm1.1Ktj/Sun1^tm1.1Ktj Sun2^tm1.1Cyh/Sun2^tm1.1Cyh
Genetic Background	involves: 129/Sv * C57BL/6 * C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sun1^tm1.1Ktj mutation (0 available); any Sun1 mutation (64 available)
Sun2^tm1.1Cyh mutation (0 available); any Sun2 mutation (42 available)

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

mortality/aging

perinatal lethality, complete penetrance ( J:224769 )

• mice do not survive birth

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

growth/size/body

decreased body weight ( J:224769 )

• at 3-4 months of age, average body weight is only slightly less than that of wild-type controls

behavior/neurological

ataxia ( J:224769 )

• at 5-6 months of age, mice exhibit cerebellar ataxia

impaired coordination ( J:224769 )

• at 3-4 months of age, the time to fall off the rotarod is significantly reduced relative to that in age-matched controls, and mice show a worse motor coordination profile than Sun1^tm1.1Ktj homozygotes

short stride length ( J:224769 )

• at 5-6 months of age, footprint analysis showed that hindlimb stride length is significantly reduced relative to that in age-matched controls

nervous system

abnormal Purkinje cell migration ( J:224769 )

• ~66% of Purkinje cells fail to present at the surface of the internal granule layer (IGL), with lobules IV to VII showing the most severe reductions in Purkinje cell numbe

• however, proliferation and migration of granule neurons are unaffected

reduced cerebellar foliation ( J:224769 )

• at P30, cerebellar foliation is severely reduced

abnormal cerebellum external granule cell layer morphology ( J:224769 )

• an EGL layer is not observed at P30

abnormal Purkinje cell morphology ( J:224769 )

• at P14, only ~14% of Syne2 is localized at the nuclear membrane of Purkinje cells relative to 44% in wild-type cells

abnormal Purkinje cell dendrite morphology ( J:224769 )

• at P30, total dendrite length, segments and branching points in Purkinje cells are reduced by ~20-30%

• at P7, only 46.6% of Purkinje cells show significant extension of primary dendrites versus 92.3% in wild-type cells, indicating retarded primary dendrite specification

ectopic Purkinje cell ( J:224769 )

• at P30, many Purkinje cells are found in the white matter of the cerebellum

• ~66% of Purkinje cells are absent from the surface of the internal granule layer (IGL), with lobules IV to VII showing the most severe reductions

• for those Purkinje cells that are correctly positioned at the surface of the IGL, >50% of the somas show distorted orientation with their cell soma oriented non-perpendicularly (>120 degrees or <60 degrees) to the border of the Purkinje cell layer and the IGL

thin cerebellar molecular layer ( J:224769 )

• at P30, the thickness of the molecular layer is significantly reduced

abnormal cerebellum fissure morphology ( J:224769 )

• at P30, fissuration of the cerebellar cortex is severely reduced

small cerebellum ( J:224769 )

• at P30, mice show a markedly smaller cerebellar size than wild-type controls

• reduced cerebellar volume is due to aberrant positioning and maturation of Purkinje cells

• no differences in apoptosis or cell proliferation are seen in the developing cerebellum at P7

abnormal CNS synapse formation ( J:224769 )

• at P7, the distribution of vesicular glutamate transporter 1 (VgluT1 encoded by the Slc17a7 gene) is amorphous in the developing cerebellum, indicating aberrant synaptic patterning

cellular

abnormal Purkinje cell migration ( J:224769 )

• ~66% of Purkinje cells fail to present at the surface of the internal granule layer (IGL), with lobules IV to VII showing the most severe reductions in Purkinje cell numbe

• however, proliferation and migration of granule neurons are unaffected

Allelic Composition	Sun1^tm1.1Ktj/Sun1⁺ Sun2^tm1.1Cyh/Sun2^tm1.1Cyh
Genetic Background	involves: 129/Sv * C57BL/6 * C57BL/6N

Find Mice

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

nervous system

nervous system phenotype ( J:224769 )

N	• at P30, mice show grossly normal cerebellar size relative to wild-type controls

abnormal Purkinje cell morphology ( J:224769 )

• at P14, 32% of Syne2 is localized at the nuclear membrane of Purkinje cells relative to 44% in wild-type cells

growth/size/body

growth/size/body region phenotype ( J:224769 )

N	• at 3-4 months of age, average body weight is similar to that of wild-type controls

behavior/neurological

behavior/neurological phenotype ( J:224769 )

N	• adult mice exhibit normal motor coordination, as assessed by rotarod performance and footprint analysis

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