D2.129(Cg)-Lhx9^tm1Lmgd/EiJ

Stock number: 006811
Product name: Lhx9-

Description

Homozygous mice for this Lhx9^tm1Lmgd knock-out exhibit a failure of proliferation of genital ridge cells and gonadal development also fails.

Detailed description

These knock-out mice lack Lhx9 function with germ cells migrating normally. However, somatic cells of the genital ridge fail to proliferate and a discrete gonad fails to form. In the absence of testosterone and anti-Mullerian hormone, genetically male mice are phenotypically female. The expression of steroidogenic factor 1 (Sf1), a nuclear receptor essential for gonadogenesis, is reduced to minimal levels in the Lhx9-deficient genital ridge. Lhx9 mutants do not exhibit additional major developmental defects. Thus, LHX9 mutations may underlie certain forms of isolated gonadal agenesis in humans.

Development

This mutation was generated in R1 ES cells, which were derived from (129X1/SvJ x 129S1/Sv)F1-Kitl⁺, and the resulting mice were bred with C57BL/6. In 2003 mice were imported into the laboratory of Dr. Eva Eicher at The Jackson Laboratory from Dr. Heiner Westphal at NIH/NICHD, and were bred to C57BL/6J for rederivation then backcrossed on to DBA/2J. In 2007 sperm were cryopreserved from heterozygous males at generation N13.

Allele

Symbol: Lhx9^tm1Lmgd
Name: targeted mutation 1, Laboratory of Mammalian Genes and Development, Heiner Westphal
MGI accession ID: MGI:1888554
Generation method: Targeted
Attributes: Null/Knockout
Synonyms: Lhx9^-
Marker symbol: Lhx9
Marker name: LIM homeobox protein 9
Marker synonyms: 3110009O07Rik; LH2B; Lhx9 alpha
Chromosome: 1
Strain of origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺
Molecular note: A neomycin resistance cassette replaced exons 2 and 3 of the gene, which encode the first and second LIM domains of the protein.