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Lmx1adr-J
Spontaneous Allele Detail
Summary
Symbol: Lmx1adr-J
Name: LIM homeobox transcription factor 1 alpha; dreher Jackson
MGI ID: MGI:1888413
Synonyms: sstJ
Gene: Lmx1a  Location: Chr1:167516806-167676310 bp, + strand  Genetic Position: Chr1, 75.08 cM
Alliance: Lmx1adr-J page
Mutation
origin
Strain of Origin:  C3FeB6 A/Aw-J-Ankank/J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA G-to-A transition mutation results in a conserved cysteine to a tyrosine amino acid change at position 82 (p.C82Y) in the LIM1 domain of the encoded protein. The conserved cysteine is thought to be required for coordination of zinc that is essential for the function of the LIM domain, and thus the transcriptional activity of the protein. (J:60593)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 36 assay results
1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 16 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Lmx1a Mutation:  20 strains or lines available
References
Original:  J:13949 Sweet HO, et al., Shaker short-tail (sst). Mouse News Lett. 1983;69:26
All:  29 reference(s)

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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last database update
04/09/2024
MGI 6.23
The Jackson Laboratory