Acanb2b183Clo
Chemically induced Allele Detail
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Symbol: |
Acanb2b183Clo |
Name: |
aggrecan; Bench to Bassinet Program (B2B/CVDC), mutation 183 Cecilia Lo |
MGI ID: |
MGI:5297419 |
Synonyms: |
Sancho Panza |
Gene: |
Acan Location: Chr7:78703231-78764847 bp, + strand Genetic Position: Chr7, 44.88 cM
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Alliance: |
Acanb2b183Clo page
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Biventricular hypertrophy confirmed by EFIC imaging
Show the 11 phenotype image(s) involving this allele.
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Strain of Origin: |
C57BL/6J
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Project Collection: |
B2B/CvDC
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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: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at coding nucleotide 1032 in exon 6 of the cDNA (c.1032T>A, NM_007424). This changes the tyrosine residue to a translation stop at position 344 of the encoded protein (p.Y344*).
(J:175213)
Additional
incidental mutations
were detected in sequencing for the causative mutation,
Acanb2b183Clo, and may be present in stocks carrying this mutation.
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View phenotypes and curated references for all genotypes (concatenated display).
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Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available
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Carrying any Acan Mutation: |
80 strains or lines available
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Summative Diagnosis
Cardiovascular defects: Biventricular hypertrophy Non-cardiovascular defects: Cleft palate, Disproportionate dwarfism with brachypodism
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