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Former Name	GL/Le Edardl-J +/+ gl    (Changed: 15-DEC-04 )
Genes & Alleles	Edar;   Edardl-J;   Ostm1;   Ostm1gl;

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Product Information

Strain Details

Type JAX® GEMM® Strain - Mutant Strain Additional information on JAX® GEMM® Strains. Species laboratory mouse Generation F65

Appearance
Edar^dl-J: agouti
Related Genotype: A/A ? +/+ ? or A/A Edar^dl-J + /+ Ostm1^gl

Edar^dl-J: agouti, sparse fur
Related Genotype: A/A ? Edar^dl-J/+ Edar^dl-J

Ostm1^gl: agouti
Related Genotype: A/A ? +/+ ? or A/A Edar^dl-J + /+Ostm1^gl

Ostm1^gl: grey, early lethal
Related Genotype: A/ A Ostm1^gl +/Ostm1^gl ?

Strain Description
Mice homozygous for the grey-lethal spontaneous mutation (Ostm1^gl) are characterized by osteopetrosis. Homozygous mutant mice are anemic, have a reduced white cell count, early thymic involution, and deficient calcium regulation. Homozygotes lack the power of secondary bone resorption. Consequently, the bones cannot grow normally, they do not form normal marrow cavities, and the teeth do not erupt.

Strain Development
Grey-lethal was received by the Jackson Laboratory from Dr. George Jay in 1950. It had been discovered by Dr. H. Gruneberg in 1935 in a stock segregating for Tyr^c-e. It arose as a spontaneous mutation. At the Jackson Laboratory it was maintained by mating tested pairs as non-sibling or sibling matings for about 8 generations. It was then crossed to C3HeB for 5 generations using the cross-intercross method. Within-stock tested matings were again used for about 6 generations and then inbreeding by tested sibling matings was used from 1960 to 1967. In 1967 a tested grey-lethal carrier male was mated to a downless Jackson (dl-J) female and the balanced stock was started. Downless Jackson arose in 1964 in a cross of two non-inbred silver stocks. It was tested as an allele of downless at University College London in 1965. The downless Jackson mutation was first outcrossed to C57BL/6J and then sibling mated to F11 and the F11 female was mated to a progeny tested grey-lethal carrier male. The stock was maintained by a balanced cross with grey-lethal and downless Jackson in repulsion since they were very closely linked on Chromosome 10. This strain was cryopreserved in 1987 by mating untested females to known double heterozygous males at generation F64.

Related Disease (OMIM) Terms Osteopetrosis, Autosomal Recessive 1; OPTB1

Mammalian Phenotype Terms assigned by genotype Ostm1gl/Ostm1gl         GL/Le Edardl-J +/+ Ostm1gl/J life span-post-weaning/aging premature death (MGI Ref ID J:13053) death occurs between 20 and 30 days of age death does not result from starvation, as artificial feeding fails to prolong life significantly pigmentation phenotype abnormal coat color (MGI Ref ID J:15551) agouti coat appears grey craniofacial phenotype abnormal dentin morphology (MGI Ref ID J:13053) there is a very wide layer of uncalcified matter in the dentine and the roots of teeth remain uncalcified abnormal incisor morphology (MGI Ref ID J:13053) shape and size are abnormal and the back of the lower incisor is found to grow through mental foramen, which becomes very enlarged and forms a protruding bulge from the back end of the incisor short incisors (MGI Ref ID J:5561) homozygotes can be recognized at 18 days of gestation by their short lower incisors which do not extend caudally beneath the first lower molar tooth germs abnormal molar morphology (MGI Ref ID J:13053) the uncalcified roots become complexly bent and wrinkled in the mandible and tend to leave the maxilla dorsally through the nerve foramina abnormal molar crown morphology (MGI Ref ID J:13053) particularly in the lower first molars, which are more compressed laterally failure of tooth eruption (MGI Ref ID J:13053) although there are malformed teeth in their sockets, they do not erupt short snout (MGI Ref ID J:13053) skeleton phenotype abnormal skeleton development (MGI Ref ID J:5561) failure of bone ossification (MGI Ref ID J:13053) calcification of the bone is incomplete, wide layers of uncalcified bone cover many of the spongiosa spicules, all spongiosa formed persists, the periosteal bone is poorly developed failure of secondary bone resorption (MGI Ref ID J:5561) due to the failure of secondary bone resorption, bones cannot grow normally, they do not form normal marrow cavities, and the teeth do not erupt absence of secondary remodelling results in abnormally shaped long limb bones, particularly the proximal end of the humerus and tibia and the distal end of the femur and radius osteopetrosis (MGI Ref ID J:82658) skin/coat/nails phenotype abnormal coat color (MGI Ref ID J:15551) agouti coat appears grey homeostasis/metabolism phenotype *normal* homeostasis/metabolism phenotype (MGI Ref ID J:29151) no aberrant bleeding time after tail vein nick growth/size phenotype cachexia (MGI Ref ID J:13053) mutants weigh less than their normal littermates from an early age, continue to be nursed by the mother long after the normal littermates are weaned, and even if sustained with a liquid diet they fail to gain weight and waste away immune system phenotype eye inflammation (MGI Ref ID J:13053) non-purulent discharge from the yes makes the eye-lids stick together after they have opened vision/eye phenotype delayed eyelid opening (MGI Ref ID J:13053) mutants often have the eyelids open slightly later than normal eye inflammation (MGI Ref ID J:13053) non-purulent discharge from the yes makes the eye-lids stick together after they have opened behavior/neurological phenotype abnormal gait (MGI Ref ID J:13053) a pecular gait developes wherein the limbs are stiffly streched so that the belly is far above the floor of the cage

Gene & Allele Details

Allele Symbol		Edardl-J
Allele Name		downless Jackson
Strain of Origin		STOCK Sisi
Gene Symbol and Name		Edar, ectodysplasin-A receptor
Chromosome		10
Gene Common Name(s)		DL; ED1R; ED3; ED5; EDA-A1R; EDA1R; EDA3; FLJ94390; RGD1561714; dl; downless;
General Note		Homozygous mutant mice lack hair follicles in the tail, sweat glands in the foot pads, and Meibomian glands in the eyelids. They have only one hair type, which is intermediate between the monotrich and awl types. In conjunction with Tg(YACEdar)949Ove, homozygous mutant mice have normal hair follicles, sweat glands, and Meibomian glands; and they display all four hair types seen in normal mice (monotrich, awl, auchene, and zigzag) (J:50575). The phenotype in the downless allelic series is analogous to the human disease, hypohidrotic/anhidrotic ectodermal dysplasia (OMIM 305100, 224900, and 129490). Similar phenotypes have also been described in mice for the Tabby allelic series at the Eda locus.
Molecular Note		This allele involves a G to A transition mutation at nucleotide 1,135 that causes the amino acid change: glutamate to lysine at position 379 (E379K). [MGI Ref ID J:56496]
Allele Symbol		Ostm1gl
Allele Name		grey-lethal
Common Name(s)		gl; grey lethal;
Strain of Origin		STOCK Tyr
Gene Symbol and Name		Ostm1, osteopetrosis associated transmembrane protein 1
Chromosome		10
Gene Common Name(s)		1200002H13Rik; AW123348; GIPN; GL; HSPC019; MGC116111; OPTB5; RIKEN cDNA 1200002H13 gene; expressed sequence AW123348; gl; grey-lethal;
Molecular Note		The mutation in the grey lethal mouse was identified as a genomic deletion of the 5' region of the gene. The deletion spanned 7.5 kb and included the promoter, the first exon and part of the first intron. The genomic sequence also included 460 bp corresponding to the 3' UTR of a LINE1 element at the deletion breakpoints. [MGI Ref ID J:82658]

Control Information

Allele	Control
Ostm1gl	Untyped from the colony
	Untyped from the colony
Considerations for Choosing Controls

Related Strains

Strains carrying   Edar^dl-J allele

000210

B6C3Fe a/a-Edardl-J/J

View Strains carrying   Edar^dl-J     (1 strain)

Strains carrying other alleles of Edar

003602

B6 x STOCK Cln6nclf-Edardl-3J/J

View Strains carrying other alleles of Edar     (1 strain)

Research Applications

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

Edar^dl-J related

Dermatology Research
Skin and Hair Texture Defects

Ostm1^gl related

Color and White Spotting Defects

Developmental Biology Research
Skeletal Defects (osteopetrosis)

Endocrine Deficiency Research
Bone/Bone Marrow Defects (osteopetrosis)

Immunology and Inflammation Research
Immunodeficiency Associated with Other Defects

References

Additional References

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Price and Supply Information

Strain Name:	GL/Le Edardl-J +/+ Ostm1gl/J
Stock Number:	000255

 

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Estimated Available for Sale Date:

Please note: Estimated available for sale dates are provided to keep customers better informed on strains under development. Please note that our Colony Managers routinely monitor the target date and edit it based on breeding performance and other factors. The length of time it takes to make a new strain available for sale depends on genotype, age, number of animals sent by the Donating Investigator, breeding performance, additional strain development (backcrossing, making homozygous), and anticipated demand for the strain/interest registered.

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Supply Details

Standard Supply	Contact Customer Service for more information.
Supply Notes	Genomic DNA is available for this strain from the Mouse DNA Resource.
Licensing	See General Terms and Conditions below
Control Information	View Control Information in Strain Details.

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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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