Phenotypes associated with this allele

• Allele Symbol: Dh⁺
• Allele Name: wild type
• Allele ID: MGI:1857879
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Dh/Dh^+	B6C3Fe a/a-Dh/J	MGI:3812527
ht2	Dh/Dh^+	B6.CBA-Dh	MGI:3819383
ht3	Dh/Dh^+	involves: C3H/He	MGI:3831198
ht4	Dh/Dh^+	Not Specified	MGI:3811403
cx5	Dh/Dh^+ Foxn1^nu/Foxn1^nu	involves: N:NIH(S)	MGI:3819387
cx6	Dh/Dh^+ Lx/Lx^+	Not Specified	MGI:3811814
cx7	Dh/Dh^+ H2^d/H2^d	NZB.Cg-Dh	MGI:3819783

Genotype
MGI:3812527

ht1

• Allelic Composition: Dh/Dh⁺
• Genetic Background: B6C3Fe a/a-Dh/J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

skeleton

skeleton phenotype ( J:58793 )

N • Background Sensitivity: lumbar vertebrae are not found to have an abnormal shape on this genetic background

abnormal tarsal bone morphology ( J:58793 )

• in heterozygotes in which the tibia is visibly smaller or absent, coalition of the ankle bones and metatarsal synostosis can be found

bowed fibula ( J:58793 )

• when there is visible shortening of the tibia the fibula is bowed

abnormal tibia morphology ( J:58793 )

• 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

absent tibia ( J:58793 )

short tibia ( J:58793 )

• the shortened tibia has a tapered appearance and always results from a deficiency of the distal portion

decreased sternebra number ( J:58793 )

• over 88% of heterozygotes have 5 sternebrae rather than the normal 6

decreased lumbar vertebrae number ( J:58793 )

• over 95% of heterozygotes have only 5 lumbar vertebrae and a few have only 4, whereas wildtype animals have 6

synostosis ( J:58793 )

• metatarsal synostosis in more severe expression

limbs/digits/tail

abnormal tarsal bone morphology ( J:58793 )

• in heterozygotes in which the tibia is visibly smaller or absent, coalition of the ankle bones and metatarsal synostosis can be found

bowed fibula ( J:58793 )

• when there is visible shortening of the tibia the fibula is bowed

abnormal tibia morphology ( J:58793 )

• 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

absent tibia ( J:58793 )

short tibia ( J:58793 )

• the shortened tibia has a tapered appearance and always results from a deficiency of the distal portion

hemimelia ( J:58793 )

Genotype
MGI:3819383

ht2

• Allelic Composition: Dh/Dh⁺
• Genetic Background: B6.CBA-Dh

immune system

abnormal T cell differentiation ( J:5834 )

absent spleen ( J:5834 )

decreased immunoglobulin level ( J:5834 )

hematopoietic system

abnormal T cell differentiation ( J:5834 )

absent spleen ( J:5834 )

decreased immunoglobulin level ( J:5834 )

Genotype
MGI:3831198

ht3

• Allelic Composition: Dh/Dh⁺
• Genetic Background: involves: C3H/He

skeleton

abnormal caudal vertebrae morphology ( J:31339 )

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

abnormal sternum morphology ( J:31339 )

• the sternum is often distorted and xiphoid process bifurcated in newborn heterozygotes that have abnormal ribs

split xiphoid process ( J:31339 )

abnormal rib morphology ( J:31339 )

• the ventral segment of adjacent ribs, both true and false ribs, in newborn heterozygotes is sometimes fused which forms a fork-like structure

decreased rib number ( J:31339 )

• the majority of newborn heterozygotes have only 6 true ribs on the right and left, instead of the normal 7

decreased lumbar vertebrae number ( J:31339 )

• all newborn heterozygotes are found to have 5, instead of the normal 6, lumbar vertebrae

limbs/digits/tail

abnormal caudal vertebrae morphology ( J:31339 )

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

Genotype
MGI:3811403

ht4

• Allelic Composition: Dh/Dh⁺
• Genetic Background: Not Specified

mortality/aging

neonatal lethality, incomplete penetrance ( J:152370 )

• the neonatal death rate is higher than normal

postnatal lethality ( J:112 )

• approximately 27% fewer heterozygotes than wild-type siblings survive to wean age

embryo

abnormal splanchnic mesoderm morphology ( J:5034 )

• 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

abnormal digit morphology ( J:112 )

• 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

oligodactyly ( J:152370 , J:112 )

• preaxial oligodactyly of the hindlimbs (J:112)

polydactyly ( J:152370 , J:112 )

• polydactyly is more common than oligodactyly (J:112)

preaxial polydactyly ( J:112 )

• preaxial polydactyly of the hindlimbs

syndactyly ( J:152370 , J:112 )

• hind-foot syndactyly may occur between digits IV and III, III and II, or II and I (J:112)

polysyndactyly ( J:112 )

triphalangia ( J:152370 , J:112 )

• triphalangy of the hallux is most common (J:112)

abnormal hindlimb morphology ( 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

abnormal femur morphology ( J:152370 )

• the femur is reduced in size and in some cases fragmented

absent femur ( J:152370 )

short femur ( J:112 )

• occasionally found

bowed fibula ( J:152370 , J:112 )

• can result from the reduction or absence of the tibia (J:112)

abnormal tibia morphology ( J:152370 )

• tibial hemimelia or absence of the tibia accompanied by fibular distortion

absent tibia ( J:152370 , J:112 )

• in a minority of heterozygotes (J:112)

short tibia ( J:112 )

abnormal patella morphology ( J:112 )

absent patella ( J:112 )

hemimelia ( J:152370 , J:112 )

• tibial hemimelia with luxation of the hind legs (J:112)

skeleton

abnormal femur morphology ( J:152370 )

• the femur is reduced in size and in some cases fragmented

absent femur ( J:152370 )

short femur ( J:112 )

• occasionally found

bowed fibula ( J:152370 , J:112 )

• can result from the reduction or absence of the tibia (J:112)

abnormal tibia morphology ( J:152370 )

• tibial hemimelia or absence of the tibia accompanied by fibular distortion

absent tibia ( J:152370 , J:112 )

• in a minority of heterozygotes (J:112)

short tibia ( J:112 )

abnormal patella morphology ( J:112 )

absent patella ( J:112 )

decreased sternebra number ( J:152370 , J:112 )

• the number of sternebrae tends to be reduced (J:152370)

• fewer than average sternebrae, with heterozygotes having an average of 5.5 sternabrae and wild-type having 6.1 (J:112)

abnormal pubis morphology ( J:152370 )

• rarely there is a reduction or even loss of the pubic element of the pelvic girdle

absent pubis ( J:152370 )

small pubis ( J:152370 , J:112 )

• occasionally found (J:112)

decreased presacral vertebrae number ( J:152370 , J:112 )

• the number of presacral vertebrae tends to be reduced (J:152370)

• heterozygotes have an average of 0.8 fewer presacral vertebrae because of a tendency for fewer than normal lumbar and thoracic vertebrae (J:112)

growth/size/body

decreased body weight ( J:112 )

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

hematopoietic system

increased granulocyte number ( J:30753 )

thrombocytosis ( J:30753 )

increased lymphocyte cell number ( J:30753 )

absent spleen ( J:152370 , 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)

• 25 of 25 heterozygotes completely lack the spleen and the splenic artery supplies the posterior branches of the pancreas (J:112)

immune system

increased granulocyte number ( J:30753 )

increased lymphocyte cell number ( J:30753 )

absent spleen ( J:152370 , 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)

• 25 of 25 heterozygotes completely lack the spleen and the splenic artery supplies the posterior branches of the pancreas (J:112)

enlarged lymph nodes ( J:30753 )

renal/urinary system

abnormal kidney morphology ( J:152370 , J:112 )

• marked flattening of the antero-ventral part of the left kidney (J:152370)

• 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)

hydronephrosis ( J:152370 )

• can occur, but is not common

hydroureter ( J:152370 , J:112 )

• can occur, but is not common (J:152370)

• found only in a minority of the left kidneys (J:112)

digestive/alimentary system

abnormal digestive system morphology ( J:152370 )

• shorter than normal alimentary canal

small stomach ( J:152370 , J:112 )

• smaller than normal stomach (J:152370)

• small stomach, primarily due to shortening of the cardiac end, in 17 of 25 heterozygotes (J:112)

cardiovascular system

abnormal cardinal vein morphology ( J:5034 )

abnormal vasculogenesis ( J:5034 )

• 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

abnormal vena cava morphology ( J:5034 )

Genotype
MGI:3819387

cx5

• Allelic Composition: Dh/Dh⁺; Foxn1^nu/Foxn1^nu
• Genetic Background: involves: N:NIH(S)

hematopoietic system

athymia ( J:6062 )

increased erythroid progenitor cell number ( J:6062 )

• demonstrated in culture

thrombocytosis ( J:6062 )

decreased leukocyte cell number ( J:6062 )

absent spleen ( J:6062 )

increased IgA level ( J:6062 )

immune system

abnormal Peyer's patch morphology ( J:6062 )

• increased histiocytic engorgement observed in this genotype

athymia ( J:6062 )

decreased leukocyte cell number ( J:6062 )

absent spleen ( J:6062 )

increased IgA level ( J:6062 )

endocrine/exocrine glands

athymia ( J:6062 )

digestive/alimentary system

abnormal Peyer's patch morphology ( J:6062 )

• increased histiocytic engorgement observed in this genotype

Genotype
MGI:3811814

cx6

• Allelic Composition: Dh/Dh⁺; Lx/Lx⁺
• Genetic Background: Not Specified

limbs/digits/tail

oligodactyly ( J:112 )

• high incidence in compound heterozygotes

absent femur ( J:112 )

• 13 of 20 adult compound heterozygotes have defective femora

absent tibia ( J:112 )

• 19 of 20 adult compound heterozygotes lack tibiae and the one with tibiae is hemimelic

skeleton

absent femur ( J:112 )

• 13 of 20 adult compound heterozygotes have defective femora

absent tibia ( J:112 )

• 19 of 20 adult compound heterozygotes lack tibiae and the one with tibiae is hemimelic

abnormal pubis morphology ( J:112 )

• 2 of 20 adult compound heterozygotes have pubic bone defects

Genotype
MGI:3819783

cx7

• Allelic Composition: Dh/Dh⁺; H2^d/H2^d
• Genetic Background: NZB.Cg-Dh

reproductive system

cryptorchism ( J:12036 )

♂ • approximately 10-15% of males suffer from this

reduced fertility ( J:12036 )

• cryptorchism in some males, infertility in some females, and mounting difficulties due to limb abnormalities all lead to reduced fecundity

reduced female fertility ( J:12036 )

♀ • 25% of females are sterile

limbs/digits/tail

polyphalangy ( J:12036 )

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

immune system

decreased B cell proliferation ( J:12036 )

• 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

increased T cell proliferation ( J:12036 )

• 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

absent spleen ( J:12036 )

• an absent spleen is characteristic of mice carrying the Dh allele

decreased IgG level ( J:12036 )

• 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

decreased IgG1 level ( J:12036 )

• 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

decreased IgM level ( J:12036 )

• 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

increased autoantibody level ( J:12036 )

• 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

increased anti-erythrocyte antigen antibody level ( J:12036 )

• 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

increased anti-nuclear antigen antibody level ( J:12036 )

• 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

increased anti-single stranded DNA antibody level ( J:12036 )

• 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

glomerulonephritis ( J:12036 )

• 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

decreased susceptibility to graft versus host disease ( J:12036 )

• 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

glomerulonephritis ( J:12036 )

• 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

decreased lymphoma incidence ( J:12036 )

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

endocrine/exocrine glands

cryptorchism ( J:12036 )

♂ • approximately 10-15% of males suffer from this

skeleton

polyphalangy ( J:12036 )

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

hematopoietic system

decreased B cell proliferation ( J:12036 )

• 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

increased T cell proliferation ( J:12036 )

• 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

absent spleen ( J:12036 )

• an absent spleen is characteristic of mice carrying the Dh allele

decreased IgG level ( J:12036 )

• 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

decreased IgG1 level ( J:12036 )

• 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

decreased IgM level ( J:12036 )

• 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

decreased B cell proliferation ( J:12036 )

• 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

increased T cell proliferation ( J:12036 )

• 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