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Allele : **Tg(Rr449-Sox9Y440)#Ksec** transgene insertion, Kathryn S E Cheah

Primary Identifier	MGI:7522791	Allele Type	Transgenic
Attribute String	Inserted expressed sequence	Gene	*Tg(Rr449-Sox9Y440)#Ksec*
Is Recombinase	false	Is Wild Type	false

molecularNote

The transgene insert contains the following elements: Hoxa1 enhancer III sequence (from downstream of the gene) and 7.5 kb genome sequence containing Sox9 with a C-to-G tyrosine (TAC) to stop codon (TAG) mutation in codon 440 (p.YY440*).

mutations:
Insertion

synonyms:
HoxaIII Sox9<Y440X>,
HoxaIII Sox9<Y440X>

earliestPublication:
Au TYK, et al. (2023) Hypomorphic and dominant-negative impact of truncated SOX9 dysregulates Hedgehog-Wnt signaling, causing campomelia. Proc Natl Acad Sci U S A 120(1):e2208623119

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

0 Carried By

0 Driven By

2 Publication categories

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Allele : Tg(Rr449-Sox9*Y440*)#Ksec transgene insertion, Kathryn S E Cheah

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