Phenotypes associated with this allele

• Allele Symbol: Is(In8B2-8B3.1;6C1)1Tshir
• Allele Name: Insertion, Chr 8 B2-B3.1 into Chr 6 C1, Toshihiko Shiroishi 1
• Allele ID: MGI:1861689
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Is(In8B2-8B3.1;6C1)1Tshir/Is(In8B2-8B3.1;6C1)1Tshir	involves: A/WySn * C57BL/10 * M. m. molossinus * NZB	MGI:5518828
cx2	Hand2^tm1.2Zllr/Hand2^+ Is(In8B2-8B3.1;6C1)1Tshir/0	involves: 129 * C57BL/6 * C57BL/10 * NZB * wild-derived	MGI:5518834
cx3	Hand2^tm1.2Zllr/Hand2^tm1.2Zllr Is(In8B2-8B3.1;6C1)1Tshir/Is(In8B2-8B3.1;6C1)1Tshir	involves: 129 * C57BL/6 * C57BL/10 * NZB * wild-derived	MGI:5518837
ot4	Is(In8B2-8B3.1;6C1)1Tshir/0	involves: A/WySn * C57BL/10 * M. m. molossinus * NZB	MGI:5518826

Genotype
MGI:5518828

hm1

• Allelic Composition: Is(In8B2-8B3.1;6C1)1Tshir/Is(In8B2-8B3.1;6C1)1Tshir
• Genetic Background: involves: A/WySn * C57BL/10 * M. m. molossinus * NZB

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

cardiovascular system

patent ductus arteriosus ( J:198239 )

• mutants exhibit patent ductus arteriosus after birth

ventricular septal defect ( J:198239 )

• over 80% of mutants exhibit a severe ventricular septal defect at E14.5-E18.5

craniofacial

zygomatic bone hypoplasia ( J:198239 )

• hypoplastic zygomatic bone resulting in an unconnected zygomatic bone

domed cranium ( J:198239 )

growth/size/body

postnatal growth retardation ( J:198239 )

limbs/digits/tail

abnormal pollex morphology ( J:27442 )

• loss of digit 1

polydactyly ( J:27442 )

• polydactyly that affects zeugopods and autopods of both hindlimbs and forelimbs

• the second and third tarsal bones are duplicated

• total number of digits on a limb vary from 5 to 7

• polydactyly is already seen E13

• digit pattern is (IV-)III-II-II-III-IV-V

preaxial polydactyly ( J:27442 )

triphalangia ( J:27442 )

• presence of two or more triphalangeal extra digits

abnormal ankle joint morphology ( J:27442 )

• the ankle joint is disturbed

abnormal tibia morphology ( J:27442 )

• variable tibia abnormalities ranging from only shortening or thinning of the distal end to complete absence of the tibia

short tibia ( J:27442 )

• the distal portion of the tibia is reduced in length

abnormal limb development ( J:27442 )

• zone of polarizing activity (ZPA) is duplicated at the anterior margin of the hindlimb buds resulting in mirror-image duplication of the anterior-distal part of the limbs

abnormal zone of polarizing activity morphology ( J:27442 )

• ZPA is duplicated at the anterior margin of the hindlimb buds

hemimelia ( J:198239 )

mortality/aging

premature death ( J:198239 )

skeleton

abnormal skeleton morphology ( J:198239 )

• bone malformation

zygomatic bone hypoplasia ( J:198239 )

• hypoplastic zygomatic bone resulting in an unconnected zygomatic bone

domed cranium ( J:198239 )

abnormal ankle joint morphology ( J:27442 )

• the ankle joint is disturbed

abnormal tibia morphology ( J:27442 )

• variable tibia abnormalities ranging from only shortening or thinning of the distal end to complete absence of the tibia

short tibia ( J:27442 )

• the distal portion of the tibia is reduced in length

clavicle hypoplasia ( J:198239 )

• hypoplastic clavicles and occasionally lack of clavicles

scoliosis ( J:198239 )

abnormal cervical vertebrae morphology ( J:198239 )

• hypoplastic cervical vertebrae

abnormal lumbar vertebrae morphology ( J:198239 )

• occasionally, mutants show absence of the sixth lumbar (L6) vertebra

sacral vertebral transformation ( J:27442 )

• transformation of the presacral vertebrae to sacrum is often seen

absent vertebral spinous process ( J:198239 )

abnormal vertebral transverse process morphology ( J:198239 )

• the anterior tubercle of the transverse process is completely or partially absent

• transverse foramen is absent

renal/urinary system

renal/urinary system phenotype ( J:198239 )

N • no renal abnormalities

embryo

abnormal zone of polarizing activity morphology ( J:27442 )

• ZPA is duplicated at the anterior margin of the hindlimb buds

cellular

patent ductus arteriosus ( J:198239 )

• mutants exhibit patent ductus arteriosus after birth

Genotype
MGI:5518834

cx2

• Allelic Composition: Hand2^tm1.2Zllr/Hand2⁺; Is(In8B2-8B3.1;6C1)1Tshir/0
• Genetic Background: involves: 129 * C57BL/6 * C57BL/10 * NZB * wild-derived

limbs/digits/tail

limbs/digits/tail phenotype ( J:198239 )

N • mutants do not exhibit first digit deformities that are seen in Is(In8B2-8B3.1;6C1)1Tshir/0 mice

Genotype
MGI:5518837

cx3

• Allelic Composition: Hand2^tm1.2Zllr/Hand2^tm1.2Zllr; Is(In8B2-8B3.1;6C1)1Tshir/Is(In8B2-8B3.1;6C1)1Tshir
• Genetic Background: involves: 129 * C57BL/6 * C57BL/10 * NZB * wild-derived

cardiovascular system

cardiovascular system phenotype ( J:198239 )

N • mutants do not exhibit ventricular septal defect

craniofacial

abnormal craniofacial morphology ( J:198239 )

• craniofacial deformities

limbs/digits/tail

limbs/digits/tail phenotype ( J:198239 )

N • mutants do not exhibit hemimelia or digit deformities

skeleton

clavicle hypoplasia ( J:198239 )

abnormal cervical vertebrae morphology ( J:198239 )

• cervical vertebra anomalies

growth/size/body

microcephaly ( J:198239 )

Genotype
MGI:5518826

ot4

• Allelic Composition: Is(In8B2-8B3.1;6C1)1Tshir/0
• Genetic Background: involves: A/WySn * C57BL/10 * M. m. molossinus * NZB

craniofacial

abnormal craniofacial morphology ( J:198239 )

• craniofacial deformities

growth/size/body

postnatal growth retardation ( J:198239 )

limbs/digits/tail

abnormal pollex morphology ( J:198239 )

• 89% of mice exhibit first digit deformities, although absence of the first digit is not seen

brachydactyly ( J:198239 )

• of first digit

clinodactyly ( J:198239 )

• of first digit

polydactyly ( J:27442 )

• duplication of the first digit varies from thickening of the diphalangeal digit to branching of triphalangeal extra digits which results in a total of 7 toes

preaxial polydactyly ( J:198239 )

• of the first digit

syndactyly ( J:198239 )

• of first digit

triphalangia ( J:27442 )

• triphalangeal extra digit located on the preaxial side of the first digit of the hindlimbs

renal/urinary system

renal/urinary system phenotype ( J:198239 )

N • no renal abnormalities

skeleton

scoliosis ( J:198239 )

abnormal cervical vertebrae morphology ( J:198239 )

• cervical vertebra defects

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
chromosomal duplication syndrome		DOID:0060429		J:198239