Sec24bY613X
Chemically induced Allele Detail
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Symbol: |
Sec24bY613X |
Name: |
SEC24 homolog B, COPII coat complex component; Tyr613Stop |
MGI ID: |
MGI:4440619 |
Synonyms: |
Sec24b811, Sec24bY613 |
Gene: |
Sec24b Location: Chr3:129776408-129855202 bp, - strand Genetic Position: Chr3, 59.87 cM
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Alliance: |
Sec24bY613X page
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Allele Type: |
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Chemically induced (ENU) |
Mutation: |
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Single point mutation
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Mutation details: ENU mutagenesis induced a T to A transversion in exon 9 (1834T>A in ENSMUST00000098616). This mutation results in an amino acid substitution of a stop codon at position 613 in a Sec23/24-binding domain instead of tyrosine (Y613X).
(J:158452)
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Key: |
hm |
homozygous |
ht |
heterozygous |
tg |
involves transgenes |
√ |
phenotype observed |
cn |
conditional genotype |
cx |
complex: > 1 genome feature |
ot |
other: hemizygous, indeterminate,... |
N |
normal phenotype |
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Genotype/ Background: |
| Allelic Composition | Genetic Background | Cell Line(s) |
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Loading... | | | involves: C3H/He * C57BL/6 | | | | involves: A * C3H/He * C57BL/6 | |
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Phenotypes: |
Affected Systems |
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embryo
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√
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abnormal embryo size
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open neural tube
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√
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spina bifida
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√
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craniorachischisis
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√
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growth/size/body
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√
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abnormal embryo size
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√
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omphalocele
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√
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hearing/vestibular/ear
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√
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abnormal orientation of inner hair cell stereociliary bundles
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√
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abnormal orientation of outer hair cell stereociliary bundles
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√
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mortality/aging
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√
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√
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lethality throughout fetal growth and development, complete penetrance
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√
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lethality throughout fetal growth and development, incomplete penetrance
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√
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postnatal lethality, incomplete penetrance
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nervous system
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√
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√
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open neural tube
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√
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spina bifida
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√
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craniorachischisis
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√
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abnormal orientation of inner hair cell stereociliary bundles
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√
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abnormal orientation of outer hair cell stereociliary bundles
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√
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vision/eye
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√
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failure of eyelid fusion
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√
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View phenotypes and curated references for all genotypes (concatenated display).
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Original: |
J:158452 Merte J, et al., Sec24b selectively sorts Vangl2 to regulate planar cell polarity during neural tube closure. Nat Cell Biol. 2010 Jan;12(1):41-6; sup pp 1-8 |
All: |
2 reference(s) |
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