Analysis revealed 2.0 and 4.5-kb deletion regions that mapped to nt 2636 to 640 and -272 to 4271 of the Pax1 gene. Northern blot using a probe against exons 1-4 and part of 5 failed to detect transcript in thymus samples. RT-PCR further confirmed inactivation of the gene. (J:100951)
Basic Information
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count