Phenotypes associated with this allele

• Allele Symbol: Hoxa11^tm1Ssp
• Allele Name: targeted mutation 1, S Steven Potter
• Allele ID: MGI:2135973
• Summary: 21 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hoxa11^tm1Ssp/Hoxa11^tm1Ssp	involves: 129S2/SvPas	MGI:3810951
hm2	Hoxa11^tm1Ssp/Hoxa11^tm1Ssp	involves: 129S2/SvPas * CF-1	MGI:2178117
hm3	Hoxa11^tm1Ssp/Hoxa11^tm1Ssp	Not Specified	MGI:2665312
ht4	Hoxa11^tm1Ssp/Hoxa11^+	involves: 129S2/SvPas * C57BL/6J	MGI:3718237
ht5	Hoxa11^tm1Ssp/Hoxa11^+	involves: 129S2/SvPas * CF-1	MGI:2178118
ht6	Hoxa11^tm1Ssp/Hoxa11^tm2.1(Hoxa13)Ssp	either: (involves: 129P2/OlaHsd * 129S2/SvPas) or (involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ)	MGI:3810952
cx7	Hoxa11^tm1Ssp/Hoxa11^tm2.1(Hoxa13)Ssp Hoxd11^tm1Mrc/Hoxd11^+	either: (involves: 129P2/OlaHsd * 129S2/SvPas * 129S7/SvEvBrd) or (involves: 129S1/Sv * 129S2/SvPas * 129S7/SvEvBrd * 129X1/SvJ)	MGI:3810948
cx8	Hoxa11^tm1Ssp/Hoxa11^tm2.1(Hoxa13)Ssp Hoxd11^tm1Mrc/Hoxd11^tm1Mrc	either: (involves: 129P2/OlaHsd * 129S2/SvPas * 129S7/SvEvBrd) or (involves: 129S1/Sv * 129S2/SvPas * 129S7/SvEvBrd * 129X1/SvJ)	MGI:3810949
cx9	Hoxa11^tm1Ssp/Hoxa11^tm1Ssp Hoxd11^tm1Mrc/Hoxd11^tm1Mrc	involves: 129S2/SvPas * 129S7/SvEvBrd	MGI:3810950
cx10	Hoxa11^tm1Ssp/Hoxa11^tm1Ssp Hoxd11^tm1Mrc/Hoxd11^+	involves: 129S2/SvPas * 129S7/SvEvBrd	MGI:3810953
cx11	Hoxa11^tm1Ssp/Hoxa11^tm1Ssp Hoxc11^tm1Mrc/Hoxc11^tm1Mrc Hoxd11^tm1Mrc/Hoxd11^tm1Mrc	involves: 129S2/SvPas * 129S7/SvEvBrd	MGI:3844345
cx12	Hoxa11^tm1Ssp/Hoxa11^tm1Ssp Hoxc11^tm1Mrc/Hoxc11^+ Hoxd11^tm1Mrc/Hoxd11^tm1Mrc	involves: 129S2/SvPas * 129S7/SvEvBrd	MGI:3844346
cx13	Hoxa11^tm1Ssp/Hoxa11^+ Hoxd^tm3Ddu/Hoxd^+	involves: 129S2/SvPas * C57BL/6 * CF-1 * SJL	MGI:2178137
cx14	Hoxa11^tm1Ssp/Hoxa11^+ Hoxd^tm3Ddu/Hoxd^tm3Ddu	involves: 129S2/SvPas * C57BL/6 * CF-1 * SJL	MGI:2178138
cx15	Hoxa11^tm1Ssp/Hoxa11^tm1Ssp Hoxd^tm3Ddu/Hoxd^tm3Ddu	involves: 129S2/SvPas * C57BL/6 * CF-1 * SJL	MGI:2178140
cx16	Hoxa11^tm1Ssp/Hoxa11^+ Hoxd11^tm2.1Ddu/Hoxd11^tm2.1Ddu	involves: 129S2/SvPas * C57BL/6J	MGI:3718231
cx17	Hoxa11^tm1Ssp/Hoxa11^tm1Ssp Hoxd11^tm2.1Ddu/Hoxd11^tm2.1Ddu	involves: 129S2/SvPas * C57BL/6J	MGI:3718233
cx18	Hoxa11^tm1Ssp/Hoxa11^tm1Ssp Hoxd11^tm2.1Ddu/Hoxd11^+	involves: 129S2/SvPas * C57BL/6J	MGI:3718234
cx19	Hoxa11^tm1Ssp/Hoxa11^+ Hoxd11^tm2.1Ddu/Hoxd11^+	involves: 129S2/SvPas * C57BL/6J	MGI:3718236
cx20	Hoxa11^tm1Ssp/Hoxa11^tm1Ssp Hoxd11^tm1Mrc/Hoxd11^tm1Mrc	mixed	MGI:2172319
cx21	Hoxa11^tm1Ssp/Hoxa11^+ Hoxd11^tm1Mrc/Hoxd11^+	mixed	MGI:2172332

Genotype
MGI:3810951

hm1

• Allelic Composition: Hoxa11^tm1Ssp/Hoxa11^tm1Ssp
• Genetic Background: involves: 129S2/SvPas

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

limbs/digits/tail

abnormal carpal bone morphology ( J:71402 )

• the styloid apophyses is abnormal

short radius ( J:71402 )

short ulna ( J:71402 )

abnormal hindlimb zeugopod morphology ( J:71402 )

• mice exhibit a separation in the distal tibia and fibula unlike in wild-type mice

reproductive system

decreased endometrial gland number ( J:71402 )

♀ • only a few endometrial glands are present

thin endometrium ( J:71402 )

♀ • few endometrial glands are present and the stromal cell layer is thinner than in wild-type mice

♀ • however, the epithelium and stromal tissue resemble wild-type uterus morphology

abnormal vas deferens morphology ( J:71402 )

♂ • the ductus deferens is tortuous and exhibit anteriorization

skeleton

abnormal carpal bone morphology ( J:71402 )

• the styloid apophyses is abnormal

short radius ( J:71402 )

short ulna ( J:71402 )

endocrine/exocrine glands

decreased endometrial gland number ( J:71402 )

♀ • only a few endometrial glands are present

Genotype
MGI:2178117

hm2

• Allelic Composition: Hoxa11^tm1Ssp/Hoxa11^tm1Ssp
• Genetic Background: involves: 129S2/SvPas * CF-1

limbs/digits/tail

fused carpal bones ( J:16079 )

• pisiform and triangular carpal bones fused

abnormal radius morphology ( J:16079 )

abnormal ulna morphology ( J:16079 )

• malformed ulna and ulnar epiphysis

abnormal fibula morphology ( J:16079 )

abnormal tibia morphology ( J:16079 )

skeleton

fused carpal bones ( J:16079 )

• pisiform and triangular carpal bones fused

abnormal radius morphology ( J:16079 )

abnormal ulna morphology ( J:16079 )

• malformed ulna and ulnar epiphysis

abnormal fibula morphology ( J:16079 )

abnormal tibia morphology ( J:16079 )

decreased rib number ( J:16079 )

• one fewer rib than normal

thoracic vertebral transformation ( J:16079 )

• transformation of the thirteenth thoracic (T13) vertebra to the first lumbar (L1) vertebra

increased lumbar vertebrae number ( J:16079 )

• addition of an eighth lumbar vertebra

endocrine/exocrine glands

small testis ( J:25252 )

♂ • sexually mature mutant testes are smaller than wild-type

cryptorchism ( J:25252 )

♂ • mutant testes exhibit incomplete descent into the scrotal sac, with variable expressivity

♂ • in some mutants, testes are located intra-abdominally near the inferior pole of the kidneys

reproductive system

increased male germ cell apoptosis ( J:25252 )

♂ • in severe cases, many mutant male germ cells appear to undergo cell death by apoptosis

small testis ( J:25252 )

♂ • sexually mature mutant testes are smaller than wild-type

cryptorchism ( J:25252 )

♂ • mutant testes exhibit incomplete descent into the scrotal sac, with variable expressivity

♂ • in some mutants, testes are located intra-abdominally near the inferior pole of the kidneys

abnormal spermatogenesis ( J:25252 )

♂ • sexually mature male homozygotes display abnormal spermatogenesis with variable expressivity

♂ • in severe cases, spermatogenesis fails to occur

azoospermia ( J:25252 )

♂ • although numerous spermatogonia are present, no mature sperm are found in the luminal lining of mutant seminiferous tubules

♂ • also, no mature sperm are detected in mutant epididymides which only contain cell debris and fluid

♂ • some mature sperm cell populations are present occasionally, consistent with variable expressivity

abnormal vas deferens morphology ( J:25252 )

♂ • the mutant vas deferens is extensively coiled, esp. at the junction between the vas deferens and the cauda epididymis

♂ • the lumen is patent but the luminal diameter is smaller than wild-type

♂ • the epithelial lining appears more simple due to a reduced complexity of mucosal folding; a more stratified organization of the epithelial lining is observed

♂ • the epithelial lining cells are more narrow and columnar than wild-type cells

♂ • the nuclei are located more basally than wild-type nuclei

♂ • the vas deferens malformation resembles a partial homeotic transformation to an epididymis

vas deferens hypoplasia ( J:25252 )

♂ • the mutant vas deferens is hypoplastic relative to wild-type

abnormal uterine environment ( J:25252 )

♀ • mutant uteri are unable to support embryonic development to term

♀ • however, mutant ova develop properly post-fertilization when transplanted into oviducts of surrogate mothers, with all embryo transfers resulting in births of normal litters

infertility ( J:25252 )

• multiple matings between mature male and female homozygotes fail to produce any offspring

female infertility ( J:25252 )

♀ • female homozygotes mate normally with wild-type males but produce no progeny

♀ • however, mutant ovaries appear histologically normal, and normal numbers of zygotes are retrieved from the oviducts upon detection of the vaginal plug

♀ • also, development of embryos within the oviducts appears unaffected, and normal blastocysts are detected at E3.5

male infertility ( J:25252 )

♂ • male homozygotes copulate with wild-type females and produce vaginal plugs at a normal frequency, but no pups are born

cellular

azoospermia ( J:25252 )

♂ • although numerous spermatogonia are present, no mature sperm are found in the luminal lining of mutant seminiferous tubules

♂ • also, no mature sperm are detected in mutant epididymides which only contain cell debris and fluid

♂ • some mature sperm cell populations are present occasionally, consistent with variable expressivity

increased male germ cell apoptosis ( J:25252 )

♂ • in severe cases, many mutant male germ cells appear to undergo cell death by apoptosis

Genotype
MGI:2665312

hm3

• Allelic Composition: Hoxa11^tm1Ssp/Hoxa11^tm1Ssp
• Genetic Background: Not Specified

skeleton

fused carpal bones ( J:26492 )

• proximal carpal bones are fused

• one additional mutant allele at the Hoxd11 locus leads to carpal malformation as well

sacral vertebral transformation ( J:26492 )

• homeotic transformation of first sacral vertebra to lumbar vertebra 7

limbs/digits/tail

fused carpal bones ( J:26492 )

• proximal carpal bones are fused

• one additional mutant allele at the Hoxd11 locus leads to carpal malformation as well

Genotype
MGI:3718237

ht4

• Allelic Composition: Hoxa11^tm1Ssp/Hoxa11⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6J

skeleton

abnormal carpal bone morphology ( J:41828 )

• 6 of 9 mice have carpal bone defects

increased lumbar vertebrae number ( J:41828 )

• 1 of 9 mice have abnormal L7 formula instead of an L6 formula found in wild-type mice

limbs/digits/tail

abnormal carpal bone morphology ( J:41828 )

• 6 of 9 mice have carpal bone defects

Genotype
MGI:2178118

ht5

• Allelic Composition: Hoxa11^tm1Ssp/Hoxa11⁺
• Genetic Background: involves: 129S2/SvPas * CF-1

skeleton

abnormal rib morphology ( J:16079 )

• normal number of ribs, but one rudimentary rib

thoracic vertebral transformation ( J:16079 )

• transformation of the thirteenth thoracic (T13) vertebra to the first lumbar (L1) vertebra

• ~ 50% penetrance

reproductive system

abnormal uterine environment ( J:25252 )

♀ • heterozygous mutant uteri are only marginally capable of supporting embryonic development to term

♀ • only 165 living embryos out of a total of 480 implantation sites are detected at 10.5 and 11.5 of gestation

decreased litter size ( J:25252 )

• heterozygous females produce severely reduced litter sizes

Genotype
MGI:3810952

ht6

• Allelic Composition: Hoxa11^tm1Ssp/Hoxa11^{tm2.1(Hoxa13)Ssp}
• Genetic Background: either: (involves: 129P2/OlaHsd * 129S2/SvPas) or (involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ)

limbs/digits/tail

abnormal calcaneum morphology ( J:71402 )

• 33% of mice exhibit a reduction in the calcaneus bone compared to in wild-type mice

abnormal forelimb zeugopod morphology ( J:71402 )

• shortened and malformed

skeleton

abnormal calcaneum morphology ( J:71402 )

• 33% of mice exhibit a reduction in the calcaneus bone compared to in wild-type mice

reproductive system

female infertility ( J:71402 )

♀

Genotype
MGI:3810948

cx7

• Allelic Composition: Hoxa11^tm1Ssp/Hoxa11^{tm2.1(Hoxa13)Ssp}; Hoxd11^tm1Mrc/Hoxd11⁺
• Genetic Background: either: (involves: 129P2/OlaHsd * 129S2/SvPas * 129S7/SvEvBrd) or (involves: 129S1/Sv * 129S2/SvPas * 129S7/SvEvBrd * 129X1/SvJ)

limbs/digits/tail

abnormal calcaneum morphology ( J:71402 )

• 72% of mice exhibit a reduction in the calcaneus bone compared to in wild-type mice

abnormal forelimb zeugopod morphology ( J:71402 )

• shortened and malformed

reproductive system

reproductive system phenotype ( J:71402 )

N • male mice are fertile

female infertility ( J:71402 )

♀

skeleton

abnormal calcaneum morphology ( J:71402 )

• 72% of mice exhibit a reduction in the calcaneus bone compared to in wild-type mice

Genotype
MGI:3810949

cx8

• Allelic Composition: Hoxa11^tm1Ssp/Hoxa11^{tm2.1(Hoxa13)Ssp}; Hoxd11^tm1Mrc/Hoxd11^tm1Mrc
• Genetic Background: either: (involves: 129P2/OlaHsd * 129S2/SvPas * 129S7/SvEvBrd) or (involves: 129S1/Sv * 129S2/SvPas * 129S7/SvEvBrd * 129X1/SvJ)

mortality/aging

decreased survivor rate ( J:71402 )

• some mice die prior to P30

premature death ( J:71402 )

• some mice die prior to P30

postnatal lethality, incomplete penetrance ( J:71402 )

• some mice die prior to P30

limbs/digits/tail

abnormal carpal bone morphology ( J:71402 )

• the styloid apophyses is severely reduced and/or fused to the ulna and radius

abnormal calcaneum morphology ( J:71402 )

• all mice exhibit a reduction in the calcaneus bone compared to in wild-type mice

abnormal forelimb zeugopod morphology ( J:71402 )

• shortened and malformed

renal/urinary system

abnormal kidney morphology ( J:71402 )

• mice exhibit an indentation in the anterior region of the left kidney unlike in wild-type mice

kidney cyst ( J:71402 )

• one pair in eight pairs of kidneys exhibit small cysts

kidney medulla hypoplasia ( J:71402 )

• the medulla layer is smaller and more disorganized than in wild-type mice

abnormal renal tubule morphology ( J:71402 )

• proximal tubule lumens are more distinct than in Hoxa11^tm1Ssp Hoxd11^tm1Mrc homozygotes

dilated renal tubule ( J:71402 )

• mice exhibit fewer dilated tubules than in Hoxa11^tm1Ssp Hoxd11^tm1Mrc homozygotes

skeleton

abnormal carpal bone morphology ( J:71402 )

• the styloid apophyses is severely reduced and/or fused to the ulna and radius

abnormal calcaneum morphology ( J:71402 )

• all mice exhibit a reduction in the calcaneus bone compared to in wild-type mice

reproductive system

female infertility ( J:71402 )

♀

growth/size/body

kidney cyst ( J:71402 )

• one pair in eight pairs of kidneys exhibit small cysts

Genotype
MGI:3810950

cx9

• Allelic Composition: Hoxa11^tm1Ssp/Hoxa11^tm1Ssp; Hoxd11^tm1Mrc/Hoxd11^tm1Mrc
• Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd

mortality/aging

decreased survivor rate ( J:71402 )

• only 0.72% of mice survive to P30

premature death ( J:71402 )

• only 0.72% of mice survive to P30

neonatal lethality, incomplete penetrance ( J:71402 )

• some mice die shortly after birth

postnatal lethality, incomplete penetrance ( J:71402 )

• most mice die prior to P30

limbs/digits/tail

abnormal carpal bone morphology ( J:71402 )

• the styloid apophyses is severely reduced and/or fused to the ulna and radius

abnormal calcaneum morphology ( J:71402 )

• the calcaneus bone is reduced and fused to the fibula unlike in wild-type mice

abnormal forelimb zeugopod morphology ( J:71402 )

• shortened and malformed

renal/urinary system

kidney cyst ( J:71402 )

kidney medulla hypoplasia ( J:71402 )

• the medulla layer is smaller and more disorganized than in wild-type mice

abnormal renal tubule morphology ( J:71402 )

• proximal tubule lumens are less distinct than in wild-type mice

• many proximal tubules are occluded

dilated renal tubule ( J:71402 )

• distal tubules are severely dilated

skeleton

abnormal carpal bone morphology ( J:71402 )

• the styloid apophyses is severely reduced and/or fused to the ulna and radius

abnormal calcaneum morphology ( J:71402 )

• the calcaneus bone is reduced and fused to the fibula unlike in wild-type mice

growth/size/body

kidney cyst ( J:71402 )

Genotype
MGI:3810953

cx10

• Allelic Composition: Hoxa11^tm1Ssp/Hoxa11^tm1Ssp; Hoxd11^tm1Mrc/Hoxd11⁺
• Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd

limbs/digits/tail

abnormal forelimb zeugopod morphology ( J:71402 )

• shortened and malformed

short radius ( J:71402 )

short ulna ( J:71402 )

skeleton

short radius ( J:71402 )

short ulna ( J:71402 )

Genotype
MGI:3844345

cx11

• Allelic Composition: Hoxa11^tm1Ssp/Hoxa11^tm1Ssp; Hoxc11^tm1Mrc/Hoxc11^tm1Mrc; Hoxd11^tm1Mrc/Hoxd11^tm1Mrc
• Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd

skeleton

skeleton phenotype ( J:84456 )

N • despite altered vertebral identity, the number of vertebrae is normal

abnormal pelvic girdle bone morphology ( J:84456 )

absent sacral vertebrae ( J:84456 )

sacral vertebral transformation ( J:84456 , J:124112 )

• sacral vertebrae adopt lumbar vertebra morphologies (J:84456)

• the sacral region is lumbar-like (J:124112)

limbs/digits/tail

abnormal forelimb zeugopod morphology ( J:84456 )

abnormal hindlimb zeugopod morphology ( J:84456 )

Genotype
MGI:3844346

cx12

• Allelic Composition: Hoxa11^tm1Ssp/Hoxa11^tm1Ssp; Hoxc11^tm1Mrc/Hoxc11⁺; Hoxd11^tm1Mrc/Hoxd11^tm1Mrc
• Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd

skeleton

abnormal sacral vertebrae morphology ( J:84456 )

• anterior sacral vertebrae lack sacral wings unlike in wild-type mice

• however, posterior sacral elements possess sacral wings

Genotype
MGI:2178137

cx13

• Allelic Composition: Hoxa11^tm1Ssp/Hoxa11⁺; Hoxd^tm3Ddu/Hoxd⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * CF-1 * SJL

skeleton

skeleton phenotype ( J:47900 )

N • normal morphology of the ulna, radius, tibia, and fibula

Genotype
MGI:2178138

cx14

• Allelic Composition: Hoxa11^tm1Ssp/Hoxa11⁺; Hoxd^tm3Ddu/Hoxd^tm3Ddu
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * CF-1 * SJL

limbs/digits/tail

abnormal radius morphology ( J:47900 )

abnormal ulna morphology ( J:47900 )

abnormal fibula morphology ( J:47900 )

• lack of distal fusion of tibia and fibula

abnormal tibia morphology ( J:47900 )

• lack of distal fusion of tibia and fibula

skeleton

abnormal radius morphology ( J:47900 )

abnormal ulna morphology ( J:47900 )

abnormal fibula morphology ( J:47900 )

• lack of distal fusion of tibia and fibula

abnormal tibia morphology ( J:47900 )

• lack of distal fusion of tibia and fibula

Genotype
MGI:2178140

cx15

• Allelic Composition: Hoxa11^tm1Ssp/Hoxa11^tm1Ssp; Hoxd^tm3Ddu/Hoxd^tm3Ddu
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * CF-1 * SJL

limbs/digits/tail

increased diameter of radius ( J:47900 )

• thickening of radius

increased diameter of ulna ( J:47900 )

• thickening of ulna

abnormal fibula morphology ( J:47900 )

• lack of distal fusion of tibia and fibula

increased diameter of fibula ( J:47900 )

• thickening of fibula

abnormal tibia morphology ( J:47900 )

• lack of distal fusion of tibia and fibula

increased diameter of tibia ( J:47900 )

• thickening of tibia

skeleton

increased diameter of radius ( J:47900 )

• thickening of radius

increased diameter of ulna ( J:47900 )

• thickening of ulna

abnormal fibula morphology ( J:47900 )

• lack of distal fusion of tibia and fibula

increased diameter of fibula ( J:47900 )

• thickening of fibula

abnormal tibia morphology ( J:47900 )

• lack of distal fusion of tibia and fibula

increased diameter of tibia ( J:47900 )

• thickening of tibia

Genotype
MGI:3718231

cx16

• Allelic Composition: Hoxa11^tm1Ssp/Hoxa11⁺; Hoxd11^tm2.1Ddu/Hoxd11^tm2.1Ddu
• Genetic Background: involves: 129S2/SvPas * C57BL/6J

skeleton

abnormal lumbar vertebrae morphology ( J:41828 )

• 11 of 11 mice have abnormal L4

• 4 of 11 mice have abnormal L6

increased lumbar vertebrae number ( J:41828 )

• 7 of 11 mice have an L7 formula instead of an L6 formula found in wild-type mice

Genotype
MGI:3718233

cx17

• Allelic Composition: Hoxa11^tm1Ssp/Hoxa11^tm1Ssp; Hoxd11^tm2.1Ddu/Hoxd11^tm2.1Ddu
• Genetic Background: involves: 129S2/SvPas * C57BL/6J

skeleton

abnormal carpal bone morphology ( J:41828 )

• 2 of 2 mice have carpal bone defects

fused carpal bones ( J:41828 )

• pisiform and pyramidal bones are fused and attached to the navicular-lunate

abnormal radius morphology ( J:41828 )

• radius and ulna are abnormally broad

abnormal ulna morphology ( J:41828 )

• radius and ulna are abnormally broad

abnormal lumbar vertebrae morphology ( J:41828 )

• 2 of 2 mice have abnormal L4

increased lumbar vertebrae number ( J:41828 )

• 2 of 2 mice have an L7 formula instead of an L6 formula found in wild-type mice

limbs/digits/tail

abnormal carpal bone morphology ( J:41828 )

• 2 of 2 mice have carpal bone defects

fused carpal bones ( J:41828 )

• pisiform and pyramidal bones are fused and attached to the navicular-lunate

abnormal radius morphology ( J:41828 )

• radius and ulna are abnormally broad

abnormal ulna morphology ( J:41828 )

• radius and ulna are abnormally broad

Genotype
MGI:3718234

cx18

• Allelic Composition: Hoxa11^tm1Ssp/Hoxa11^tm1Ssp; Hoxd11^tm2.1Ddu/Hoxd11⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6J

skeleton

abnormal carpal bone morphology ( J:41828 )

• 4 of 7 mice have carpal bone defects

abnormal lumbar vertebrae morphology ( J:41828 )

• 6 of 7 mice have abnormal L4

increased lumbar vertebrae number ( J:41828 )

• 6 of 7 mice have an L7 formula instead of an L6 formula found in wild

limbs/digits/tail

abnormal carpal bone morphology ( J:41828 )

• 4 of 7 mice have carpal bone defects

Genotype
MGI:3718236

cx19

• Allelic Composition: Hoxa11^tm1Ssp/Hoxa11⁺; Hoxd11^tm2.1Ddu/Hoxd11⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6J

skeleton

abnormal carpal bone morphology ( J:41828 )

• 1 of 11 mice have carpal bone defects

abnormal lumbar vertebrae morphology ( J:41828 )

• 7 of 11 mice have abnormal L4

• 1 of 11 mice have abnormal L6

increased lumbar vertebrae number ( J:41828 )

• 2 of 11 mice have an L7 formula instead of an L6 formula found in wild-type mice

limbs/digits/tail

abnormal carpal bone morphology ( J:41828 )

• 1 of 11 mice have carpal bone defects

Genotype
MGI:2172319

cx20

• Allelic Composition: Hoxa11^tm1Ssp/Hoxa11^tm1Ssp; Hoxd11^tm1Mrc/Hoxd11^tm1Mrc
• Genetic Background: mixed

mortality/aging

perinatal lethality, incomplete penetrance ( J:26492 )

• most pups die perinatally of kidney dysfunction

• only about 20% of the expected number of homozygotes survive to weaning

skeleton

abnormal limb bone morphology ( J:26492 )

abnormal carpal bone morphology ( J:26492 )

• deformed navicular lunate

• triangular bone either fused to distal carpals or missing

absent carpal bone ( J:26492 )

• pisiform bone is missing

• triangular bone is either missing or fused to distal carpals

abnormal tarsal bone morphology ( J:26492 )

• proximal tarsal bones are absent

abnormal long bone morphology ( J:26492 )

abnormal phalanx morphology ( J:26492 )

• first and second phalanges of digit 3 often fused

• second phalange of digits 2 and 5 often missing

absent radius ( J:26492 )

• almost completely absent

absent ulna ( J:26492 )

• almost completely absent

abnormal fibula morphology ( J:26492 )

• never fuses distally with tibia

increased diameter of fibula ( J:69851 )

short metacarpal bones ( J:26492 )

• reduced in length

abnormal vertebrae morphology ( J:26492 )

decreased caudal vertebrae number ( J:26492 )

• occasionally one caudal vertebra is lost

thoracic vertebral transformation ( J:26492 )

• homeotic transformation of thoracic vertebra 13 to lumbar vertebra 1

increased lumbar vertebrae number ( J:26492 )

• nine rather than six lumbar vertebrae

abnormal sacral vertebrae morphology ( J:26492 )

• non-transformed sacral vertebrae fail to fuse

decreased sacral vertebrae number ( J:26492 )

• occasionally only one is present

sacral vertebral transformation ( J:26492 )

• homeotic transformation of sacral vertebrae 1 and 2 to lumbar vertebrae 8 and 9

limbs/digits/tail

abnormal autopod rotation ( J:26492 )

• absence of radius and ulna results in forepaw being rotated 90^o from axis

• autopod abnormalities already becoming established at E13.5

abnormal digit morphology ( J:26492 )

• digits 1 to 3 curved preaxially

syndactyly ( J:26492 )

• digits 1 to 3 joined by overlying skin

abnormal forelimb zeugopod morphology ( J:26492 )

• abnormal zeugopod abnormalities already becoming established at E13.5

abnormal limb bone morphology ( J:26492 )

abnormal carpal bone morphology ( J:26492 )

• deformed navicular lunate

• triangular bone either fused to distal carpals or missing

absent carpal bone ( J:26492 )

• pisiform bone is missing

• triangular bone is either missing or fused to distal carpals

abnormal phalanx morphology ( J:26492 )

• first and second phalanges of digit 3 often fused

• second phalange of digits 2 and 5 often missing

abnormal tarsal bone morphology ( J:26492 )

• proximal tarsal bones are absent

absent radius ( J:26492 )

• almost completely absent

absent ulna ( J:26492 )

• almost completely absent

abnormal fibula morphology ( J:26492 )

• never fuses distally with tibia

increased diameter of fibula ( J:69851 )

short metacarpal bones ( J:26492 )

• reduced in length

decreased caudal vertebrae number ( J:26492 )

• occasionally one caudal vertebra is lost

renal/urinary system

abnormal kidney morphology ( J:69851 )

• occasionally "dumb-bell" shaped

• lateral rather than medial insertion of ureter

• more caudal and medial in location

abnormal kidney cortex morphology ( J:26492 )

• poorly developed in newborns

• little nephrogenic activity in the subscapular region of the kidney

• thick cortical tissue in adult kidneys

abnormal kidney development ( J:69851 )

abnormal kidney medulla development ( J:26492 )

• poorly developed in newborns

abnormal metanephric mesenchyme morphology ( J:69851 )

• mesenchyme surrounding tips of nephric ducts does not condense and is easily fragmented

kidney papillary hypoplasia ( J:26492 )

• poorly developed in the adult kidney

renal hypoplasia ( J:26492 )

• severe renal hypoplasia in newborns

decreased renal tubule number ( J:26492 )

• those present in the adult are well developed and the glomerulae are mor or less normal

absent kidney ( J:26492 )

• one or both kidneys often absent

abnormal ureter development ( J:69851 )

• single outgrowth from the caudal segment of the Wolffian duct develops normally at E11.5

impaired branching involved in ureteric bud morphogenesis ( J:69851 )

• defects in branching morphology evident by E13.5 although elongation continues

• absence of epithelial structures in ureteric bud branches

• branch termini are absent in mid ventral kidney at E13.5 but not in poles and dorsum

reproductive system

abnormal vas deferens morphology ( J:26492 )

♂ • transformed toward a morphology similar to the epidymis

Genotype
MGI:2172332

cx21

• Allelic Composition: Hoxa11^tm1Ssp/Hoxa11⁺; Hoxd11^tm1Mrc/Hoxd11⁺
• Genetic Background: mixed

skeleton

fused carpal bones ( J:26492 )

• proximal carpal bones are fused

• one additional mutant allele at either locus leads to carpal malformation as well

sacral vertebral transformation ( J:26492 )

• homeotic transformation of first sacral vertebra to lumbar vertebra 7

limbs/digits/tail

fused carpal bones ( J:26492 )

• proximal carpal bones are fused

• one additional mutant allele at either locus leads to carpal malformation as well