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| Nomenclature |
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Symbol:
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Papss2bm
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Name:
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3'-phosphoadenosine 5'-phosphosulfate synthase 2;
brachymorphic
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MGI ID: |
MGI:1856688 |
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Synonyms: |
bm |
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Gene:
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Papss2
Location:
Chr19:32620005-32667187 bp, + strand
Genetic Position: Chr19,
27.46 cM
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Skeletal development of Papss2bm/+ (left) and Papss2bm/Papss2bm (right) at P0, P10 and P30.
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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LDJ/Le-Grem1ld-J + a/ + Atrnmg a
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Nucleotide substitutions |
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Mutation details: A point mutation resulting in a glycine to arginine substitution at the highly conserved codon 79 is predicted to be responsible for the mutant phenotype seen in the brachymorphic mouse. (J:49338, J:50114)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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Original: |
J:5109
Lane PW et al.,
"Three recessive mutations producing disproportionate dwarfing in mice: achondroplasia, brachymorphic, and stubby."
J Hered 1968 Sep-Oct;59(5):300-8
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All: |
22 reference(s)
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Analysis Tools
