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 973 in exon 4 of the cDNA (c.973T>A, NM_152944). This changes the tyrosine residue to asparagine at position 325 of the encoded protein (p.Y325N). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Mmp21b2b2458Clo, and may be present in stocks carrying this mutation.

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
--
1
3
3

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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