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Ggt1dwg
Spontaneous Allele Detail
Summary
Symbol: Ggt1dwg
Name: gamma-glutamyltransferase 1; dwarf grey
MGI ID: MGI:1856850
Gene: Ggt1  Location: Chr10:75397438-75422034 bp, + strand  Genetic Position: Chr10, 38.55 cM
Alliance: Ggt1dwg page
Small body size, grey coat color and cataracts of Ggt1dwg/Ggt1dwg mice (lower)

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  (STOCK Pou1f1dw x T(8;16)17H)F1
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsA 13 bp deletion (GATGCGACCCTGT) is present in exon 7. RT-PCR analysis detected 4 different transcripts in homozygous mice, the expected 13 bp deletion (type 1), a 75 bp deleted version that includes the 13 bp deletion (type 2), a version lacking all of exon 3 (type 3) and a version lacking exons 3 and 4 (type 4) both also having the 13 bp deletion in exon 7. Some clones of types 1, 3 , and 4 also include partial or complete retention of introns 9 or 10. The type 1, 3, and 4 transcripts are predicted to result in a frameshift and premature termination at amino acid residue 281, 57 , and 63, respectively. The type 2 transcript is predicted to create a 25 amino acid deletion spanning residues 270 - 294. (J:156192)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 12 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 Ggt1 Mutation:  50 strains or lines available
References
Original:  J:14281 Harris B, et al., Dwarf grey (dwg). Mouse Genome. 1990;86:238
All:  6 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
03/12/2024
MGI 6.23
The Jackson Laboratory