A 3.6 kb transgene replaced a large genomic segment (at least 36 kb) including exons 20-22, and disrupted a regulatory element that affects the expression of the downstream Grem1 gene. The deletion overlaps an 11 kb interval involved in two other limb deformity alleles: the Fmn1ld-TgHD insertion/deletion and the Fmn1ld-Is(17;In2)1Gso chromosomal rearrangement. This mutation was determined by complementation analyses to be allelic to Fmn1ld-TgHD, Grem1ld, and Grem1ld-J. The transgene contains 1.1 kb of 5' flanking sequence from the rat myelin protein zero gene (Mpz) fused to a mutant simian virus 40 early region sequence (tsA-1609). Ribonuclease protection assays suggest that isoform IV transcripts produced by the 3' region of this allele are disrupted. No differences were detected between mutant and wild-type transcripts produced by the 5' and central regions of the gene. (J:1741, J:38417)
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基础信息

模型ID
品系来源
等位基因类型
突变
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(C57BL/6 x SJL)F2
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Deletion, Insertion
Recessive
1
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7

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标签摘要:
hm: 纯合子
ht: 杂合子
cn: 条件基因型
cx: 复合型:涉及多基因组
tg: 转基因
ot: 其他:半合子、不确定...
(F): 雌性
(M): 雄性
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N: 正常表型
(#): 上标括号内为相关疾病数量
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