Phenotypes associated with this allele

• Allele Symbol: Hoxd12^tm2Ddu
• Allele Name: targeted mutation 2, Denis Duboule
• Allele ID: MGI:2177960
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hoxd12^tm2Ddu/Hoxd12^tm2Ddu	involves: 129S2/SvPas	MGI:2178062
cx2	Hoxd12^tm2Ddu/Hoxd12^+ Hoxd13^tm1Ddu/Hoxd13^+	either: (involves: 129S2/SvPas * 129/Sv) or (involves: 129S2/SvPas * C57BL/6)	MGI:2178077
cx3	Del(2Hoxd11-Hoxd13)29Ddu/Del(2Hoxd11-Hoxd13)29Ddu Hoxd12^tm2Ddu/Hoxd12^tm2Ddu	involves: 129S2/SvPas	MGI:2178067
cx4	Hoxd12^tm2Ddu/Hoxd12^tm2Ddu Hoxd13^tm2Ddu/Hoxd13^tm2Ddu	involves: 129S2/SvPas	MGI:3840844

Genotype
MGI:2178062

hm1

• Allelic Composition: Hoxd12^tm2Ddu/Hoxd12^tm2Ddu
• Genetic Background: involves: 129S2/SvPas

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

digestive/alimentary system

abnormal internal anal sphincter morphology ( J:36770 )

• ill-formed internal anal sphincter

muscle

abnormal smooth muscle morphology ( J:36770 )

• marked disorganization of rectal muscle layers in the region of the internal anal sphincter, with an abnormally thin or degenerated outer muscle layer

abnormal internal anal sphincter morphology ( J:36770 )

• ill-formed internal anal sphincter

limbs/digits/tail

abnormal phalanx morphology ( J:36770 )

• minor reduction of the second phalange of digit V

brachydactyly ( J:47366 )

• some digital elements are slightly reduced compared to in wild-type mice

skeleton

abnormal phalanx morphology ( J:36770 )

• minor reduction of the second phalange of digit V

Genotype
MGI:2178077

cx2

• Allelic Composition: Hoxd12^tm2Ddu/Hoxd12⁺; Hoxd13^tm1Ddu/Hoxd13⁺
• Genetic Background: either: (involves: 129S2/SvPas * 129/Sv) or (involves: 129S2/SvPas * C57BL/6)

limbs/digits/tail

abnormal digit morphology ( J:36770 )

• postminimus in 80% of trans-heterozygous mice

brachyphalangia ( J:36770 )

• reduction in digit size of trans-heterozygous mice is most prominent in the second phalanges

brachydactyly ( J:36770 )

• trans-heterozygous mice exhibit a reduction of digits V and II in the forelimbs

skeleton

brachyphalangia ( J:36770 )

• reduction in digit size of trans-heterozygous mice is most prominent in the second phalanges

Genotype
MGI:2178067

cx3

• Allelic Composition: Del(2Hoxd11-Hoxd13)29Ddu/Del(2Hoxd11-Hoxd13)29Ddu; Hoxd12^tm2Ddu/Hoxd12^tm2Ddu
• Genetic Background: involves: 129S2/SvPas

limbs/digits/tail

abnormal phalanx morphology ( J:47900 )

• absent second phalange of digit V

• reduction in size of second phalange of digit II

skeleton

abnormal phalanx morphology ( J:47900 )

• absent second phalange of digit V

• reduction in size of second phalange of digit II

Genotype
MGI:3840844

cx4

• Allelic Composition: Hoxd12^tm2Ddu/Hoxd12^tm2Ddu; Hoxd13^tm2Ddu/Hoxd13^tm2Ddu
• Genetic Background: involves: 129S2/SvPas

reproductive system

reduced male fertility ( J:47366 )

♂

limbs/digits/tail

abnormal carpal bone morphology ( J:47366 )

• d5 and d5* split from d4 and supernumerary distal carpal-like ossifications are found in the interdigital region unlike in wild-type mice

abnormal digit morphology ( J:47366 )

• digits are more severely affected than in Hoxd13^tm1Ddu

• malformed articulations in forelimb digits II, III, and IV form a single metacarpophalangeal rod unlike in wild-type mice

polydactyly ( J:47366 )

• in 20% of mice a broader than normal digit V splits to form a full postaxial extra digit

abnormal metatarsal bone morphology ( J:47366 )

• metatarsals V and I are broader than normal

skeleton

abnormal carpal bone morphology ( J:47366 )

• d5 and d5* split from d4 and supernumerary distal carpal-like ossifications are found in the interdigital region unlike in wild-type mice

abnormal metatarsal bone morphology ( J:47366 )

• metatarsals V and I are broader than normal