Overview

Also Known As:ulnaless

These mice carry a radiation induced mutation at the Lnpk locus characterized by severe abnormalities in all four limbs.

Genetic overview

Genetic Background	Generation

a

Allele Type	Gene Symbol	Gene Name
Spontaneous	a	nonagouti

A

Allele Type	Gene Symbol	Gene Name
Spontaneous	a	nonagouti

Allele Type	Gene Symbol	Gene Name
Radiation induced	Lnpk	lunapark, ER junction formation factor

Research Applications

Developmental Biology Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

The ulnaless mutation (Ul) causes severe abnormalities in all four limbs, but no abnormalities in the axial or cranial skeleton in either heterozygotes or homozygotes. Heterozygotes have an extreme reduction in the size of the radius and ulna with deformed fibulas, which are shortened and detached from the tibia, and tibias, which are generally bowed, and tibia and fibula are generally rotated approximately 90 degrees. Male heterozygotes fail to mate on this predominantly B6;C3H genetic background, but they appear to have normal gametogenesis and Peichel et al successfully used sperm from heterozygous males in in vitro fertilization. Fewer than the 50% expected heterozygotes are observed in the offspring of heterozygote x wildtype crosses on this background and this is due to prenatal and neonatal death. Females are more likely to die perinatally than are males. Homozygotes, assessed on a genetic background that included MOLF/Ei and FVB/N, have a more severe phenotype than heterozygotes, affecting the same skeletal components. The radius is shorter, there is no ossification center of the ulna, and there is a more severe loss of the fibula.

Development

The ulnaless mutation was identified in the progeny of an HT linkage testing stock female (homozygous for a, Gdf5^bp Sqk3^fz Mlph^ln Bloc1s6^pa and Ap3b1^pe) bred with a (C3H/HeJ x 101/H)F1 male that had received two 500 rad doses of X-rays 24 hours apart. This mutation was then maintained by breeding a heterozygote to a (C3H/HeJ x 101/H)F1, and was imported from Harwell into The Jackson Laboratory by Dr. Eva Eicher after 1968 and prior to 1970. At some point in the 1970?s it was maintained by breeding female heterozygotes to (C57BL/6J x CsH/HeJ)F1 males, such that in 1986 it reached generation N20. In 1984 embryos were generated for cryopreservation by breeding female heterozygotes at generation N13 with C57BL/6JEi males.

Control Suggestions

Wild-type from the colony

Additional Information

Considerations for Choosing Controls

Genetics

a

Allele Symbol: a

Allele Name	nonagouti
Allele Type	Spontaneous
Allele Synonym(s)
Gene Symbol and Name	a, nonagouti
Gene Synonym(s)
Strain of Origin	old mutant of the mouse fancy
Chromosome	2
General Note	Insertion of the LV30 retrotransposon without the beta4 retrovirus sequence does not cause the nonagouti phenotype. J:278039
Molecular Note	Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats (beta4 retroviral sequence). The host integration site is the same as for a^t-2Gso and A^w-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type.

A

Allele Symbol: A

Allele Name	wild-type agouti
Allele Type	Spontaneous
Allele Synonym(s)	dark-bellied agouti
Gene Symbol and Name	a, nonagouti
Gene Synonym(s)
Strain of Origin	various
Chromosome	2
General Note	The A allele is usually regarded as a wild-type allele. For example,the C3H and CBA mouse sublines are homozygous for agouti. Hairs are black with a subapical yellow band. This black-yellow-black pattern is referred to as agouti. The general appearance is yellowish brown, slightly lighter on the belly than on the back.
Molecular Note	This allele, often referred to as wild-type, comprises a novel 131 amino acid protein encoded in a gene comprising four exons, three coding, spanning 18kb. Unique changes in this gene account for all other alleles that have been molecularly characterized. The expression of this allele is almost always dominant to other alleles of this gene.

Lnpk^Ul

Allele Symbol: Lnpk^Ul

Allele Name	ulnaless
Allele Type	Radiation induced
Allele Synonym(s)	Ul
Gene Symbol and Name	Lnpk, lunapark, ER junction formation factor
Gene Synonym(s)
Strain of Origin	(C3H/HeJ x 101/H)F1
Chromosome	2
Molecular Note	The ulnaless mouse has been characterized as a paracentric inversion with a centromeric breakpoint into the lunapark gene and a telomeric breakpoint 770 kb away. This inversion disrupts the lunapark gene and increases the distance between the neighboring HoxD cluster and a cluster of enhancer sequences controlling several distinct genes over a large region. Genes Evx2, Hoxd12 and Hoxd13 are all misexpressed in the limb buds and genital buds of the ulnaless mouse. The inverted DNA includes Evx2, the HoxD complex, Mtx2, as well as some pseudogenes.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Genotype: Lnpk^Ul related

Developmental Biology Research
- Skeletal Defects

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Lnpk^Ul/Lnpk⁺
involves: 101/H * C3H/HeJ

limbs/digits/tail phenotype

abnormal fibula morphology
- deformities

abnormal tibia morphology
- deformities

decreased radius size
- extreme reduction

short ulna
- extreme reduction

reproductive system phenotype

male infertility
- males do not breed

skeleton phenotype

abnormal fibula morphology
- deformities

abnormal tibia morphology
- deformities

decreased radius size
- extreme reduction

short ulna
- extreme reduction

Genotype: Lnpk^Ul/Lnpk⁺
involves: 101/H * C3H/HeJ * C57BL/6J

limbs/digits/tail phenotype

abnormal fibula morphology
- detached from tibia
- rotated 90 degrees

abnormal metacarpal bone morphology
- articulations to distal ends of long bones are abnormal

abnormal metatarsal bone morphology
- articulations to distal ends of long bones are abnormal

abnormal tibia morphology
- rotated 90 degrees

bowed tibia

decreased radius size
- extreme reduction

short fibula

short ulna
- extreme reduction

reproductive system phenotype

male infertility
- males do not breed although females breed well
- spermatogenesis unimpaired

skeleton phenotype

abnormal fibula morphology
- detached from tibia
- rotated 90 degrees

abnormal metacarpal bone morphology
- articulations to distal ends of long bones are abnormal

abnormal metatarsal bone morphology
- articulations to distal ends of long bones are abnormal

abnormal tibia morphology
- rotated 90 degrees

bowed tibia

decreased radius size
- extreme reduction

short fibula

short ulna
- extreme reduction

Genotype: Lnpk^Ul/Lnpk^Ul
involves: C3H/HeJ * C57BL/6J * FVB/N

limbs/digits/tail phenotype

abnormal limb morphology
- homozygotes have a more severe reduction of the ulna and radius than heterozygotes and there is a severe loss of the fibula and severe reduction and bowing of the tibia

bowed tibia

short fibula

short radius

short tibia

short ulna

mortality/aging

postnatal lethality
- Background Sensitivity - although the anticipated 1:2:1 Mendelian ratio is obtained at birth from heterozygous intercrosses, very few homozygotes are found at wean age on this predominantly FVB/N background, and those that do survive are male, but this loss of homozygotes is not gound on a predominantly MOLF/Ei background
- Background Sensitivity - gound on a predominantly MOLF/Ei background

skeleton phenotype

bowed tibia

delayed bone ossification
- the ossification centers of the ulna and fibula are absent in homozygous neonates

short fibula

short radius

short tibia

short ulna

Genotype: Lnpk^Ul/Lnpk^Ul
involves: C3H/HeJ * C57BL/6J * MOLF/Ei

limbs/digits/tail phenotype

abnormal limb morphology
- homozygotes have a more severe reduction of the ulna and radius than heterozygotes and there is a severe loss of the fibula and severe reduction and bowing of the tibia

bowed tibia

short fibula

short radius

short tibia

short ulna

skeleton phenotype

bowed tibia

delayed bone ossification
- the ossification centers of the ulna and fibula are absent in homozygous neonates

short fibula

short radius

short tibia

short ulna

Genotype: Lnpk^Ul/Lnpk⁺
involves: C3H/HeJ * C57BL/6J * FVB/N

mortality/aging

postnatal lethality
- Background Sensitivity - at weaning there are fewer heterozygotes, both male and female, than expeted from heterozygote x FVB/N matings on a predominantly FVB/N background, but not on a predominantly MOLF/Ei background

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

Genotype: Lnpk^Ul/Lnpk⁺
B6EiC3-+ a/Lnpk
A/J

homeostasis/metabolism phenotype

increased bleeding time
- bleeding time is increased 2.6- to 3-fold compared to controls
- Normal - platelet numbers and function appear normal

References

Additional References

Spitz F; Gonzalez F; Duboule D. 2003. A global control region defines a chromosomal regulatory landscape containing the HoxD cluster. Cell 113(3):405-17PubMed: 12732147 MGI: J:83372

Additional - a related

Additional - A related

Additional - Lnpk^Ul related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Breeding Considerations

Extra shavings/bedding and food on the bottom of the boxes may be helpful in maintaining this strain.
- Additional Breeding and Husbandry Support
Appearance
- agouti, unaffected
  Related Genotype: A +/? +
  
  agouti, limb abnormality
  Related Genotype: A Lnpk1^Ul/? +
  
  black, unaffected
  Related Genotype: a +/a +
  
  black, limb abnormality
  Related Genotype: a Lnpk1^Ul/a +
Citation
When using the ulnaless mouse strain in a publication, please cite the originating article(s) and include JAX stock #000557 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

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

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Heterozygous or Wild-type for Lnp<Ul>

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The Jackson Laboratory's Genotype Promise

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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

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General Terms and Conditions

Questions about Terms of Use

Licensing Information

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JAX® Mice, Products & Services Conditions of Use

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Also Known As:ulnaless

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

a

Allele Symbol: a

A

Allele Symbol: A

LnpkUl

Allele Symbol: LnpkUl

Disease Terms

Research Areas By Phenotype

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

Genotype: LnpkUl related

Mammalian Phenotype Terms by Genotype

Genotype: LnpkUl/Lnpk+involves: 101/H * C3H/HeJ

limbs/digits/tail phenotype

reproductive system phenotype

skeleton phenotype

Genotype: LnpkUl/Lnpk+involves: 101/H * C3H/HeJ * C57BL/6J

limbs/digits/tail phenotype

reproductive system phenotype

skeleton phenotype

Genotype: LnpkUl/LnpkUlinvolves: C3H/HeJ * C57BL/6J * FVB/N

limbs/digits/tail phenotype

mortality/aging

skeleton phenotype

Genotype: LnpkUl/LnpkUlinvolves: C3H/HeJ * C57BL/6J * MOLF/Ei

limbs/digits/tail phenotype

skeleton phenotype

Genotype: LnpkUl/Lnpk+involves: C3H/HeJ * C57BL/6J * FVB/N

mortality/aging

Genotype: LnpkUl/Lnpk+B6EiC3-+ a/Lnpk A/J

homeostasis/metabolism phenotype

References

Additional References

Additional - a related

Additional - A related

Additional - LnpkUl related

Genotyping Protocols

Breeding Considerations

Appearance

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

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

Lnpk^Ul

Allele Symbol: Lnpk^Ul

Genotype: Lnpk^Ul related

Genotype: Lnpk^Ul/Lnpk⁺
involves: 101/H * C3H/HeJ

Genotype: Lnpk^Ul/Lnpk⁺
involves: 101/H * C3H/HeJ * C57BL/6J

Genotype: Lnpk^Ul/Lnpk^Ul
involves: C3H/HeJ * C57BL/6J * FVB/N

Genotype: Lnpk^Ul/Lnpk^Ul
involves: C3H/HeJ * C57BL/6J * MOLF/Ei

Genotype: Lnpk^Ul/Lnpk⁺
involves: C3H/HeJ * C57BL/6J * FVB/N

Genotype: Lnpk^Ul/Lnpk⁺
B6EiC3-+ a/Lnpk
A/J

Additional - Lnpk^Ul related