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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Dh
dominant hemimelia
MGI:1857878
Summary 9 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Dh/Dh involves: C3H/He MGI:3831197
hm2
Dh/Dh Not Specified MGI:3510635
ht3
Dh/Dh+ B6C3Fe a/a-Dh/J MGI:3812527
ht4
Dh/Dh+ B6.CBA-Dh MGI:3819383
ht5
Dh/Dh+ involves: C3H/He MGI:3831198
ht6
Dh/Dh+ Not Specified MGI:3811403
cx7
Dh/Dh+
Foxn1nu/Foxn1nu
involves: N:NIH(S) MGI:3819387
cx8
Dh/Dh+
Lx/Lx+
Not Specified MGI:3811814
cx9
Dh/Dh+
H2d/H2d
NZB.Cg-Dh MGI:3819783


Genotype
MGI:3831197
hm1
Allelic
Composition
Dh/Dh
Genetic
Background
involves: C3H/He
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dh mutation (1 available); any Dh mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• 1 of 33 homozygous newborns have a curled tail due to distortion of caudal vertebrae

skeleton
• 1 of 33 homozygous newborns have a curled tail due to distortion of caudal vertebrae
• 10 of 33 homozygous newborns have a distorted sternum often with bifurcated xiphoid process
• 32 of 33 homozygous newborns have only 6 true ribs on the right and left, instead of the normal 7
• the last lumbar vertebra is abnormal in shape and irregularly connected with sacral vertebrae on one side in 7 of 33 homozygous newborns
• all of 33 homozygous newborns have fewer than the normal 6 lumbar vertebrae, with 32 having 5 lumbar vertebrae and 1 having only 4 lumbar vertebrae




Genotype
MGI:3510635
hm2
Allelic
Composition
Dh/Dh
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dh mutation (1 available); any Dh mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes usually die in the first few days of life and approximately 4% survive to wean age and may breed (J:112)
• homozygotes die, usually within 4 days of birth (J:152370)

embryo
• at E9.5, splanchnic mesoderm is abnormal in appearance from the stomach to the posterior end of the coelom where there is no epithelial plate, although the anterior end is normal, and aberrant development in the gut follows

skeleton
• femur is shortened, distorted and often fragmented at birth
• both tibiae are usually absent
• patellae are often absent
• fewer than normal sternebrae, with homozygotes having an average of 5.0 sternebrae and wild-type having 6.1
• homozygotes have an average of 12.5 thoracic ribs and wild-type have 13
• homozygotes have an average of 1.6 fewer presacral vertebrae because of a tendency for fewer than normal lumbar and thoracic vertebrae

limbs/digits/tail
N
• forelimbs are normal
• absence of 1 to 4 digits in all homozygotes with the left hind feet more affected than the right hind feet (J:112)
• loss of up to three digits from the pre-axial side of the hind foot (J:152370)
• on 5% of feet of homozygotes, usually between digits III and IV
• hind legs are short and twisted and all homozygotes are affected (J:112)
• the hind leg is always greatly twisted and reduced in size (J:152370)
• femur is shortened, distorted and often fragmented at birth
• both tibiae are usually absent
• patellae are often absent

immune system
• of 25 homozygotes assessed at birth or within a few days of birth none had a spleen (J:112)

digestive/alimentary system
• the anus and external opening of the urethra may be closed, the stomach is always very small, the intestine is half the normal length and ends blindly in the region of the colon
• 44% of homozygotes examined at birth or within a few days of birth are found to have no anus
• 28% of homozygotes examined at birth or within a few days of birth have no caecum
• extreme reduction in stomach size in all homozygotes (J:112)

renal/urinary system
• severe hydronepohrosis and hydroureter with the two ureters often joining together and having no bladder and an incompletely formed urethra
• found as early as embryonic day 15.5 and all homozygotes have hydropic kidneys and ureters (J:112)
• 20% of newborn homozygotes have blind endings to the ureters
• 20% of newborn homozygotes have blind endings to the urethras (J:112)
• external opening of the urethra may be closed (J:152370)
• 32% of newborn homozygotes have no bladder or a vestigial bladder

hematopoietic system
• of 25 homozygotes assessed at birth or within a few days of birth none had a spleen (J:112)

reproductive system
• 10% of newborn homozygotes have blind endings to the uterine horns
• 10% of homozygous newborns have a gap in the vagina and 4% have no external genital papilla or opening
• 4% of newborn homozygotes have no vaginal opening
• in some homozygotes

cardiovascular system
• the vitelline vein does not pass around the duodenum and the duodenum is usually displaced medially and caudally from its normal position
• the posterior vena cava usually develops from the left posterior cardinal vein instead of the right and is positioned on the left side of the aorta, runs anteriorly in the body wall and joins the azygous vein
• the vitelline vein enters the liver at a more ventral point than normal
• the left posterior cardinal vein becomes enlarged and acts as the main drainage for the whole body posterior to the heart and eventually forms the definitive posterior vena cava, and pushes against the left kidney which becomes flattened




Genotype
MGI:3812527
ht3
Allelic
Composition
Dh/Dh+
Genetic
Background
B6C3Fe a/a-Dh/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dh mutation (1 available); any Dh mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
N
• Background Sensitivity: lumbar vertebrae are not found to have an abnormal shape on this genetic background
• in heterozygotes in which the tibia is visibly smaller or absent, coalition of the ankle bones and metatarsal synostosis can be found
• when there is visible shortening of the tibia the fibula is bowed
• the tibia is reduced in size to a degree that can be used to classify heterozygotes in one of three discrete categories: imperceptibly shortened, noticably shortened, or entirely absent
• the shortened tibia has a tapered appearance and always results from a deficiency of the distal portion
• over 88% of heterozygotes have 5 sternebrae rather than the normal 6
• over 95% of heterozygotes have only 5 lumbar vertebrae and a few have only 4, whereas wildtype animals have 6
• metatarsal synostosis in more severe expression

limbs/digits/tail
• in heterozygotes in which the tibia is visibly smaller or absent, coalition of the ankle bones and metatarsal synostosis can be found
• when there is visible shortening of the tibia the fibula is bowed
• the tibia is reduced in size to a degree that can be used to classify heterozygotes in one of three discrete categories: imperceptibly shortened, noticably shortened, or entirely absent
• the shortened tibia has a tapered appearance and always results from a deficiency of the distal portion




Genotype
MGI:3819383
ht4
Allelic
Composition
Dh/Dh+
Genetic
Background
B6.CBA-Dh
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dh mutation (1 available); any Dh mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype



Genotype
MGI:3831198
ht5
Allelic
Composition
Dh/Dh+
Genetic
Background
involves: C3H/He
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dh mutation (1 available); any Dh mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• 1 of 109 heterozygous newborns show a curled tail due to distortion of caudal vertebrae
• the sternum is often distorted and xiphoid process bifurcated in newborn heterozygotes that have abnormal ribs
• the ventral segment of adjacent ribs, both true and false ribs, in newborn heterozygotes is sometimes fused which forms a fork-like structure
• the majority of newborn heterozygotes have only 6 true ribs on the right and left, instead of the normal 7
• all newborn heterozygotes are found to have 5, instead of the normal 6, lumbar vertebrae

limbs/digits/tail
• 1 of 109 heterozygous newborns show a curled tail due to distortion of caudal vertebrae




Genotype
MGI:3811403
ht6
Allelic
Composition
Dh/Dh+
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dh mutation (1 available); any Dh mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• the neonatal death rate is higher than normal
• approximately 27% fewer heterozygotes than wild-type siblings survive to wean age

embryo
• at E9.5, splanchnic mesoderm appears abnormal from the stomach to the posterior end of the coelom, but is normal in the anterior end, and aberrant development in the gut follows

limbs/digits/tail
• defects are localized to the preaxial side of the hindlimbs and vary in severity in a range including a slight thickening and lengthening of the hallux, triphalangy of the hallux, addition of a digit or part of a digit on the outside of the hallux, or oligodactyly
• preaxial oligodactyly of the hindlimbs (J:112)
• polydactyly is more common than oligodactyly (J:112)
• preaxial polydactyly of the hindlimbs
• hind-foot syndactyly may occur between digits IV and III, III and II, or II and I (J:112)
• triphalangy of the hallux is most common (J:112)
• luxation and reduction in length of one or both hindlimbs can be found in some heterozygotes accompanied by oligodactyly
• luxation is found in 40.8% of left hind legs and 49.2% of right hind legs
• in the more severe cases the patella and trochlea patellaris are reduced or absent
• the femur is reduced in size and in some cases fragmented
• occasionally found
• can result from the reduction or absence of the tibia (J:112)
• tibial hemimelia or absence of the tibia accompanied by fibular distortion
• in a minority of heterozygotes (J:112)
• tibial hemimelia with luxation of the hind legs (J:112)

skeleton
• the femur is reduced in size and in some cases fragmented
• occasionally found
• can result from the reduction or absence of the tibia (J:112)
• tibial hemimelia or absence of the tibia accompanied by fibular distortion
• in a minority of heterozygotes (J:112)
• fewer than average sternebrae, with heterozygotes having an average of 5.5 sternabrae and wild-type having 6.1 (J:112)
• the number of sternebrae tends to be reduced (J:152370)
• rarely there is a reduction or even loss of the pubic element of the pelvic girdle
• occasionally found (J:112)
• heterozygotes have an average of 0.8 fewer presacral vertebrae because of a tendency for fewer than normal lumbar and thoracic vertebrae (J:112)
• the number of presacral vertebrae tends to be reduced (J:152370)

growth/size/body
• heterozygotes weigh approximately 15% less than wild-type siblings at 3 to 4 weeks of age

hematopoietic system
• 25 of 25 heterozygotes completely lack the spleen and the splenic artery supplies the posterior branches of the pancreas (J:112)
• the entire absence of the spleen in all carriers is detectable in newborns by visible assessment of viscera through the body wall (J:152370)

immune system
• 25 of 25 heterozygotes completely lack the spleen and the splenic artery supplies the posterior branches of the pancreas (J:112)
• the entire absence of the spleen in all carriers is detectable in newborns by visible assessment of viscera through the body wall (J:152370)

renal/urinary system
• most heterozygotes have an abnormal flattening of the left kidney where it abuts the stomach, and the remainder have a hyudropic left kidney and associated hydroureter (J:112)
• marked flattening of the antero-ventral part of the left kidney (J:152370)
• can occur, but is not common
• found only in a minority of the left kidneys (J:112)
• can occur, but is not common (J:152370)

digestive/alimentary system
• shorter than normal alimentary canal
• small stomach, primarily due to shortening of the cardiac end, in 17 of 25 heterozygotes (J:112)
• smaller than normal stomach (J:152370)

cardiovascular system
• the vitelline vein does not pass around the duodenum and the duodenum is usually displaced medially and caudally from its normal position
• the posterior vena cava usually develops from the left posterior cardinal vein instead of the right and is positioned on the left side of the aorta, runs anteriorly in the body wall and joins the azygous vein
• the vitelline vein enters the liver at a more ventral point than normal
• the left posterior cardinal vein becomes enlarged and acts as the main drainage for the whole body posterior to the heart and eventually forms the definitive posterior vena cava, and pushes against the left kidney which becomes flattened




Genotype
MGI:3819387
cx7
Allelic
Composition
Dh/Dh+
Foxn1nu/Foxn1nu
Genetic
Background
involves: N:NIH(S)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dh mutation (1 available); any Dh mutation (1 available)
Foxn1nu mutation (43 available); any Foxn1 mutation (106 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• demonstrated in culture

immune system
• increased histiocytic engorgement observed in this genotype

endocrine/exocrine glands




Genotype
MGI:3811814
cx8
Allelic
Composition
Dh/Dh+
Lx/Lx+
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dh mutation (1 available); any Dh mutation (1 available)
Lx mutation (1 available); any Lx mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• high incidence in compound heterozygotes
• 13 of 20 adult compound heterozygotes have defective femora
• 19 of 20 adult compound heterozygotes lack tibiae and the one with tibiae is hemimelic

skeleton
• 13 of 20 adult compound heterozygotes have defective femora
• 19 of 20 adult compound heterozygotes lack tibiae and the one with tibiae is hemimelic
• 2 of 20 adult compound heterozygotes have pubic bone defects




Genotype
MGI:3819783
cx9
Allelic
Composition
Dh/Dh+
H2d/H2d
Genetic
Background
NZB.Cg-Dh
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dh mutation (1 available); any Dh mutation (1 available)
H2d mutation (23 available); any H2 mutation (282 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• approximately 10-15% of males suffer from this
• cryptorchism in some males, infertility in some females, and mounting difficulties due to limb abnormalities all lead to reduced fecundity
• 25% of females are sterile

limbs/digits/tail
• preaxial triphalangy and /or poly-, syn- or oligodactyly of the hindfeet are characteristic of mice carrying the Dh allele

immune system
• B cell proliferation to LPS is reduced by about a third at 2 months of age compared to NZB controls
• no differences are found in B cells from mice 7 months of age
• T cell proliferation to PHA is enhanced by a third at 2 months of age compared to NZB controls
• no differences are found at 7 months of age where proliferation of T cells from both groups is reduced 10-fold compared to T cells from their 2-month old counter parts
• an absent spleen is characteristic of mice carrying the Dh allele
• at six months of age, the mean IgG2 level is 2.32 mg/ml compared to 4.37 mg/ml in NZB controls
• at one year of age, the mean IgG2 level is 3.70 mg/ml compared to 6.38 mg/ml in NZB controls
• at six months of age, the mean IgG1 level is 1.39 mg/ml compared to 1.84 mg/ml in NZB controls
• at one year of age, the mean IgG1 level is 1.45 mg/ml compared to 2.17 mg/ml in NZB controls
• at three months of age, the mean IgM level is 0.13 mg/ml compared to 0.45 mg/ml in NZB controls
• at six months of age, the mean IgM level is 0.35 mg/ml compared to 0.79 mg/ml in NZB controls
• at one year of age, the mean IgM level is 0.57 mg/ml compared to 1.38 mg/ml in NZB controls
• Background Sensitivity: mice have increased levels of "naturally occurring thymocytotoxic IgM antibodies" (NTA) compared to NZB controls
• Background Sensitivity: 8 of 9 mice at 6 weeks of age have significant levels of NTAs compared to none in a similar sized group of age-matched NZB mice
• Background Sensitivity: at one year of age, all mice have a mean NTA log2titer of 4.5 compared to 60% of NZB controls with detectable amounts of NTA with a mean titer of 2.2
• Background Sensitivity: 100% of animals by 9 months of age have detectable levels of anti-erythrocyte antibodies (i.e. positive Coombs' test)
• Background Sensitivity: while anti-erythrocyte antibodies are characteristic of the NZB strain, there are differences with this mouse strain in the immunoglobulin classes involved
• Background Sensitivity: one year old mice have a four-fold decrease in the serum level of anti-erythrocyte IgM with a corresponding increase in anti-erythrocyte IgG1
• Background Sensitivity: sheep red blood cells injected into 3 but not 9 month old mice have higher levels of agglutinating antibody coating the cells than in NZB controls t
• Background Sensitivity: 30% of mice at 3 months of age and 90% of mice at 9 months of age have detectable levels of anti-polyIpolyC antibodies, which is similar to NZB controls
• Background Sensitivity: 30% of mice at 3 months of age and 90% of mice at 9 months of age have detectable levels of anti-single stranded DNA antibodies, which is similar to NZB controls
• Background Sensitivity: mice develop a glomular disease similar to NZB controls except that there is no evidence of lymphocytic infiltrate, which occurs in 80% of the NZB controls
• thymocytes isolated from these mice at 20 weeks of age are better able to suppress graft versus host disease (GVHD )than controls in an induced form of GVHD caused by transfer with wild-type NZB splenocytes into an irradiated host
• similar suppression of GVHD as controls is observed when thymocytes are isolated from 4 week old mice

renal/urinary system
• Background Sensitivity: mice develop a glomular disease similar to NZB controls except that there is no evidence of lymphocytic infiltrate, which occurs in 80% of the NZB controls

neoplasm
• Background Sensitivity: lymphomas, which occur in 11% of NZB mice by one year of age, are not observed in these mice

endocrine/exocrine glands
• approximately 10-15% of males suffer from this

skeleton
• preaxial triphalangy and /or poly-, syn- or oligodactyly of the hindfeet are characteristic of mice carrying the Dh allele

hematopoietic system
• B cell proliferation to LPS is reduced by about a third at 2 months of age compared to NZB controls
• no differences are found in B cells from mice 7 months of age
• T cell proliferation to PHA is enhanced by a third at 2 months of age compared to NZB controls
• no differences are found at 7 months of age where proliferation of T cells from both groups is reduced 10-fold compared to T cells from their 2-month old counter parts
• an absent spleen is characteristic of mice carrying the Dh allele
• at six months of age, the mean IgG2 level is 2.32 mg/ml compared to 4.37 mg/ml in NZB controls
• at one year of age, the mean IgG2 level is 3.70 mg/ml compared to 6.38 mg/ml in NZB controls
• at six months of age, the mean IgG1 level is 1.39 mg/ml compared to 1.84 mg/ml in NZB controls
• at one year of age, the mean IgG1 level is 1.45 mg/ml compared to 2.17 mg/ml in NZB controls
• at three months of age, the mean IgM level is 0.13 mg/ml compared to 0.45 mg/ml in NZB controls
• at six months of age, the mean IgM level is 0.35 mg/ml compared to 0.79 mg/ml in NZB controls
• at one year of age, the mean IgM level is 0.57 mg/ml compared to 1.38 mg/ml in NZB controls

cellular
• B cell proliferation to LPS is reduced by about a third at 2 months of age compared to NZB controls
• no differences are found in B cells from mice 7 months of age
• T cell proliferation to PHA is enhanced by a third at 2 months of age compared to NZB controls
• no differences are found at 7 months of age where proliferation of T cells from both groups is reduced 10-fold compared to T cells from their 2-month old counter parts





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory