Overview

This spontaneous mutation in the lipoma HMGIC fusion partner-like 2 gene disrupts the development of the distal reproductive tract in both females and males and causes corneal opacity, exophthalmos, and possibly hearing impairment.

Genetic overview

Genetic Background	Generation

Lhfpl2^vgim

Allele Type	Gene Symbol	Gene Name
Spontaneous	Lhfpl2	lipoma HMGIC fusion partner-like 2

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Research Applications

Reproductive Biology Research
Developmental Biology Research

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Base Price

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$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

This spontaneous mutation causes ocular defects and developmental defects in both the male and female distal reproductive systems. Homozygotes are reported to have corneal hazing, exophthalmos, and increased pupil movement, and auditory brainstem response testing of two homozygotes indicated elevated thresholds. Homozygous females can be identified between four to five weeks of age by complete closure of the vagina and a soft, reducible swelling of the perineum. Viscous fluid builds up in the uteri and females do not reproduce, but do live a normal lifespan. The Mullerian duct tips fail to merge or enter the urogenital sinus at E15.5, which results in an unmerged upper vagina and vaginal atresia. Although the ovaries have normal histology and function and the uterus seems to develop normally too, during the estrus stage the reproductive tracts are larger than normal with 30% having a dark appearance in the uterus and upper vagina. The distended uterine horns have an enlarged lumen filled with viscous fluid, the uterine and vaginal walls are compressed, and the upper vagina has enlarged, fluid-filled double lumens. Approximately 70% of male homozygotes are sterile due to failed development in the distal vas deferens. The tips of the Wolffian ducts fail to merge with the urogenital sinus, which results in convolutions at the junctions of the vas deferens and urethra. In the majority of males these knots in the distal vas deferens do not permit the passage of sperm. Some homozygotes have abnormal seminal vesicles on one or both sides. The sperm counts from cauda epididymis were found to be normal, and the lumen of the adult vas deferens was found to be dense with sperm.

Development

The vaginal imperforation mutation was identified at The Jackson Laboratory in the strain B6.129S4-Ttpa^tm1Far/J (stock #003823), which was fixed homozygous at generation N10. This mutant subline was backcrossed further onto the C57BL/6J background by homozygous ovarian transplant host bred to C57BL/6J then intercrossing obligate heterozygous offspring. In this way the targeted mutation was bred out of the mutant subline.

Selected References

Karst SY; Ward-Bailey PF; Washburn LL; Bergstrom DE; Donahue LR; Davisson-Fahey MT. 2011. Vaginal imperforation; a new mutation on Chromosome 13 causing a reproductive phenotype MGI Direct Data SubmissionMGI: J:167822
Fairfield H; Gilbert GJ; Barter M; Corrigan RR; Curtain M; Ding Y; D'Ascenzo M; Gerhardt DJ; He C; Huang W; Richmond T; Rowe L; Probst FJ; Bergstrom DE; Murray SA; Bult C; Richardson J; Kile BT; Gut I; Hager J; Sigurdsson S; Mauceli E; Di Palma F; Lindblad-Toh K; Cunningham ML; Cox TC; Justice MJ; Spector MS; Lowe SW; Albert T; Donahue LR; Jeddeloh J; Shendure J; Reinholdt LG. 2011. Mutation discovery in mice by whole exome sequencing. Genome Biol 12(9):R86PubMed: 21917142 MGI: J:176116

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Genetics

Lhfpl2^vgim

Allele Symbol: Lhfpl2^vgim

Allele Name	vaginal imperforation
Allele Type	Spontaneous
Allele Synonym(s)	vaginal imperforation; Lhfpl2^vgim
Gene Symbol and Name	Lhfpl2, lipoma HMGIC fusion partner-like 2
Gene Synonym(s)	AI447312; vgim; vgim; expressed sequence AI447312; expressed sequence AW050335; mKIAA0206; AW050335; vaginal imperforation
Strain of Origin	B6.129S4-Ttpa^tm1Far/J
Chromosome	13
Molecular Note	This spontaneous mutation has a G to A transition at Chromosome 13 position 94,944,483 (build 37) which is predicted to cause a glycine to glutamic acid substitution at amino acid 102.

Disease/Phenotype

Disease Terms

Research Areas By Genotype

This mouse can be used to support research in many areas including:

Genotype: Lhfpl2^vgim related

Reproductive Biology Research
- Fertility Defects
- Developmental Defects Affecting Gonads
  - females only
Developmental Biology Research
- Internal/Organ Defects
  - urogenital
  - ovary; uterus

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Lhfpl2^vgim/Lhfpl2^vgim
B6(129S4)-Lhfpl2/GrsrJ

behavior/neurological phenotype

abnormal pupillary reflex
- enhanced pupil movement in both of 2 homozygotes at 17 weeks of age

digestive/alimentary phenotype

abnormal perineum morphology

vision/eye phenotype

abnormal pupillary reflex
- enhanced pupil movement in both of 2 homozygotes at 17 weeks of age

corneal opacity
- corneal hazing is found at 17 weeks of age
- in both females and males

exophthalmos
- in both females and males
- protruding eyes in both of 2 homozygotes assessed at 17 weeks of age

thin retinal inner nuclear layer
- varying expressivity described for this phenotype

embryo phenotype

abnormal Mullerian duct topology
- homozygotes at E15.5 have Mullerian ducts with enlarged tips that fail to merge or enter the urogenital sinus, and this results in unmerged upper vagina and lower vaginal agenesis

abnormal Wolffian duct connection
- at E15.5 the tips of the Wolffian ducts are enlarged and flattened and fail to enter the urogenital sinus, which results in the convolutions at the junctions of vas deferens and urethra

endocrine/exocrine gland phenotype

abnormal seminal vesicle morphology
- males with the more severe convolutions of the distal vas deferens also have abnormalities of the seminal vesicle morphology on one or both sides

hearing/vestibular/ear phenotype

increased or absent threshold for auditory brainstem response
- in both of 2 homozygotes at 3 months of age

reproductive system phenotype

abnormal female genitalia morphology
- adult females have a soft, reducible swelling of the perineum due to the absence of a normal vaginal orifice, and at 19 weeks of age the vagina and cervix are found to be dilated

abnormal female reproductive system morphology
- in addition to the distal vaginal agenesis, during estrus all homozygotes have larger than normal reproductive tracts with 30% having a dark appearance in the uterus and upper vagina, although homozygotes have normal ovarian histology and function and normal uterine development and response to E2 treatment

abnormal perineum morphology

abnormal reproductive system development
- the Mullerian duct goes through initiation and elongation phases to reach the urogenital sinus, but there is failed tip development and no merging with the urogenital sinus

abnormal seminal vesicle morphology
- males with the more severe convolutions of the distal vas deferens also have abnormalities of the seminal vesicle morphology on one or both sides

abnormal uterine horn morphology
- distended uterine horns and upper vagina

abnormal uterus morphology
- uteri exhibit a buildup of a viscous fluid

abnormal vagina development

abnormal vagina morphology
- in addition to the distal vagina agenesis, the upper vagina has enlarged double lumens filled with viscous fluid and a compressed vaginal wall

abnormal vas deferens morphology
- all males have knot-like convolutions in the distal vas deferens at the junction with the urethra that result in either complete or incomplete blockage resulting in either sterility or reduced fertility, respectively

dilated uterine cervix

enlarged uterus

female infertility

reduced male fertility
- despite normal sperm counts from cauda epididymis, approximately 70% of homozygous males are infertile because the blockage prevents release of sperm

vagina atresia
- all homozygotes at 8 weeks of age have a closed vagina
- complete closure of the vagina

References

Karst SY; Ward-Bailey PF; Washburn LL; Bergstrom DE; Donahue LR; Davisson-Fahey MT. 2011. Vaginal imperforation; a new mutation on Chromosome 13 causing a reproductive phenotype MGI Direct Data SubmissionMGI: J:167822
Fairfield H; Gilbert GJ; Barter M; Corrigan RR; Curtain M; Ding Y; D'Ascenzo M; Gerhardt DJ; He C; Huang W; Richmond T; Rowe L; Probst FJ; Bergstrom DE; Murray SA; Bult C; Richardson J; Kile BT; Gut I; Hager J; Sigurdsson S; Mauceli E; Di Palma F; Lindblad-Toh K; Cunningham ML; Cox TC; Justice MJ; Spector MS; Lowe SW; Albert T; Donahue LR; Jeddeloh J; Shendure J; Reinholdt LG. 2011. Mutation discovery in mice by whole exome sequencing. Genome Biol 12(9):R86PubMed: 21917142 MGI: J:176116

Additional - Lhfpl2^vgim related

Technical Support

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Genotyping Protocols
- Genotyping resources and troubleshooting
Mating System
- Ovarian Transplant-Cross-Intercross
Citation
When using the B6(129S4)-Lhfpl2^vgim/GrsrJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #013716 in your Materials and Methods section.

Animal Health Reports

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Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

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Genotype

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Cryorecovery - Pricing

Service	Genotype	Price
	Heterozygous for Lhfpl2<vgim>

We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation.

Related Products and Services

Frozen Mouse Embryo	B6(129S4)-Lhfpl2<vgim>/GrsrJ Frozen Embryos	$2595.00
Frozen Mouse Embryo	B6(129S4)-Lhfpl2<vgim>/GrsrJ Frozen Embryos	$2595.00
Frozen Mouse Embryo	B6(129S4)-Lhfpl2<vgim>/GrsrJ Frozen Embryos	$3373.50
Frozen Mouse Embryo	B6(129S4)-Lhfpl2<vgim>/GrsrJ Frozen Embryos	$3373.50

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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.

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Genetic overview

Research Applications

Base Price

Detailed Description

Development

Selected References

Lhfpl2vgim

Allele Symbol: Lhfpl2vgim

Disease Terms

Research Areas By Genotype

This mouse can be used to support research in many areas including:

Genotype: Lhfpl2vgim related

Mammalian Phenotype Terms by Genotype

Genotype: Lhfpl2vgim/Lhfpl2vgimB6(129S4)-Lhfpl2/GrsrJ

behavior/neurological phenotype

digestive/alimentary phenotype

vision/eye phenotype

embryo phenotype

endocrine/exocrine gland phenotype

hearing/vestibular/ear phenotype

reproductive system phenotype

References

Additional - Lhfpl2vgim related

Genotyping Protocols

Mating System

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Related Products and Services

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Lhfpl2^vgim

Allele Symbol: Lhfpl2^vgim

Genotype: Lhfpl2^vgim related

Genotype: Lhfpl2^vgim/Lhfpl2^vgim
B6(129S4)-Lhfpl2/GrsrJ

Additional - Lhfpl2^vgim related