Adamts1^tm1Hku
Targeted Allele Detail

Summary

• Symbol: Adamts1^tm1Hku
• Name: ADAM metallopeptidase with thrombospondin type 1 motif 1; targeted mutation 1, Hiroki Kurihara
• MGI ID: MGI:2156168
• Synonyms: ADAMTS-1 -
• Gene: Adamts1 Location: Chr16:85590715-85600001 bp, - strand Genetic Position: Chr16, 48.2 cM, cytoband C3-C5
• Alliance: Adamts1^tm1Hku page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:62260
• Parent Cell Line: SM1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A 1.6kb genomic fragment containing exons 2-4 was replaced with a neomycin selection cassette. RT-PCR analysis confirmed that the encoded transcript was not present in detectable levels in RNA derived from kidney of homozygous mice. (J:62260)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1  Disease Model	Adamts1^tm1Hku/Adamts1^tm1Hku	involves: 129S6/SvEvTac * C57BL/6

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms Sex:
adipose tissue	√	√
decreased total body fat amount	√	√
endocrine/exocrine glands	√	√
abnormal adrenal medulla morphology	√	√
decreased mature ovarian follicle number	√
growth/size/body	√	√
decreased body weight	√	√
uterus cyst	√
homeostasis/metabolism	√	√
homeostasis/metabolism phenotype	N	N
decreased urine chloride ion level	√	√
decreased urine potassium level	√	√
decreased urine sodium level	√	√
renal/urinary system	√	√
decreased urine chloride ion level	√	√
decreased urine potassium level	√	√
decreased urine sodium level	√	√
abnormal kidney corticomedullary boundary morphology	√	√
absent kidney papilla	√	√
kidney papillary hypoplasia	√	√
dilated kidney calyx	√	√
abnormal ureter morphology	√	√
abnormal ureteropelvic junction morphology	√	√
ureteropelvic junction obstruction	√	√
polyuria	√	√
reproductive system	√	√
decreased mature ovarian follicle number	√
uterus cyst	√
dilated uterus	√
impaired embryo implantation	√
reduced female fertility	√
decreased litter size	√	√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

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disease model

expected model not found

Models:

Human Diseases	hm1
urinary tract obstruction IDs urinary tract obstruction       DOID:5200 ICD10CM:N13.9 ICD9CM_2006:599.6 ICD9CM:599.6 ICD9CM:599.60 NCI:C79805 UMLS_CUI:C0178879 Close	√

Expression

In Structures Affected by this Mutation:

11 anatomical structure(s)

Find Mice (IMSR)

• 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
• Carrying any Adamts1 Mutation: 66 strains or lines available

References

• Original: J:62260 Shindo T, et al., ADAMTS-1: a metalloproteinase-disintegrin essential for normal growth, fertility, and organ morphology and function [see comments]. J Clin Invest. 2000 May;105(10):1345-52
• All: 2 reference(s)