All Phenotypes Tg(Mpz-cre)94Imeg MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Gna11^tm1Soff/Gna11^tm1Soff Gnaq^tm2Soff/Gnaq^tm2Soff Tg(Mpz-cre)94Imeg/0	involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6	MGI:3796532
cn2	Nf1^tm1Par/Nf1^tm1Par Tg(Mpz-cre)94Imeg/0	involves: 129S1/Sv * 129X1/SvJ	MGI:3710235
cn3	Col1a1^{tm1(tetO-EWSR1/ATF1)Yasu}/Col1a1⁺ Gt(ROSA)26Sor^{tm1(rtTA*M2)Jae}/Gt(ROSA)26Sor^tm1(EYFP)Cos Tg(Mpz-cre)94Imeg/0	involves: 129S4/SvJae * 129X1/SvJ * C57BL/6	MGI:5485201
cn4	Gjb2^tm1Kkam/Gjb2^tm1Kkam Tg(Mpz-cre)94Imeg/0	involves: 129S4/SvJae * C57BL/6J	MGI:5615099
cn5	Smo^tm2Amc/Smo^tm2.1Amc Tg(Mpz-cre)94Imeg/0	involves: 129X1/SvJ	MGI:4843926
cn6	Evc2^tm2.1Mis/Evc2^tm2.1Mis Tg(Mpz-cre)94Imeg/0	involves: 129X1/SvJ	MGI:5698050
cn7	Alk^{tm1.1(ALKF1174L)Heno}/Alk^{tm1.1(ALKF1174L)Heno} Tg(Mpz-cre)94Imeg/0 Tg(Th-MYCN)41Waw/0	involves: 129X1/SvJ * BALB/c * C57BL/6 * SJL	MGI:6476981
cn8	Alk^{tm1.1(ALK*F1174L)Heno}/Alk⁺ Tg(Mpz-cre)94Imeg/0 Tg(Th-MYCN)41Waw/0	involves: 129X1/SvJ * BALB/c * C57BL/6 * SJL	MGI:6476983
cn9	Alk^{tm1.1(ALKF1174L)Heno}/Alk^{tm1.1(ALKF1174L)Heno} Tg(Mpz-cre)94Imeg/0	involves: 129X1/SvJ * C57BL/6 * C57BL/6N * SJL	MGI:6476976
cn10	Tg(CAG-Bmpr1a*,-lacZ)1Nobs/0 Tg(Mpz-cre)94Imeg/0	involves: 129X1/SvJ * C57BL/6J	MGI:5473901
cn11	Cdc42^tm1.1Ayam/Cdc42^tm1.1Ayam Tg(Mpz-cre)94Imeg/0	Not Specified	MGI:7335182
cn12	Hand1^tm3Abfi/Hand1⁺ Tg(Mpz-cre)94Imeg/0	Not Specified	MGI:5604136

Allelic Composition	Gna11^tm1Soff/Gna11^tm1Soff Gnaq^tm2Soff/Gnaq^tm2Soff Tg(Mpz-cre)94Imeg/0
Genetic Background	involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gna11^tm1Soff mutation (0 available); any Gna11 mutation (21 available)
Gnaq^tm2Soff mutation (0 available); any Gnaq mutation (24 available)
Tg(Mpz-cre)94Imeg mutation (0 available)

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

craniofacial

craniofacial phenotype ( J:131382 )

N	• incisive alveolar bone in distal mandibular region is relatively well-developed

abnormal sphenoid bone morphology ( J:131382 )

abnormal alisphenoid bone morphology ( J:131382 )

• lamina obturans is duplicated

abnormal pterygoid process morphology ( J:131382 )

• duplicated in mutants

abnormal hyoid bone morphology ( J:131382 )

• hyoid is not fused to basisphenoid in all cases; body of hyoid has extended ossification center and is fused to lesser hyoid horn and often with superior horn of thyroid similar to Ednrb-knock-in homozygotes

lower jaw to upper jaw transformation ( J:131382 )

• maxillary bones are duplicated in mandibular region

abnormal palatine bone morphology ( J:131382 )

• duplication of palatine bone is observed

abnormal zygomatic bone morphology ( J:131382 )

• duplication of jugal bone in mandibular region is observed

skeleton

abnormal sphenoid bone morphology ( J:131382 )

abnormal alisphenoid bone morphology ( J:131382 )

• lamina obturans is duplicated

abnormal pterygoid process morphology ( J:131382 )

• duplicated in mutants

abnormal hyoid bone morphology ( J:131382 )

lower jaw to upper jaw transformation ( J:131382 )

• maxillary bones are duplicated in mandibular region

abnormal palatine bone morphology ( J:131382 )

• duplication of palatine bone is observed

abnormal zygomatic bone morphology ( J:131382 )

• duplication of jugal bone in mandibular region is observed

Allelic Composition	Nf1^tm1Par/Nf1^tm1Par Tg(Mpz-cre)94Imeg/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1^tm1Par mutation (4 available); any Nf1 mutation (157 available)
Tg(Mpz-cre)94Imeg mutation (0 available)

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

growth/size/body

decreased body size ( J:80323 )

respiratory system

respiratory failure ( J:80323 )

• pups do not initiate normal respiration

nervous system

abnormal adrenergic chromaffin cell morphology ( J:80323 )

• increase in the number of adrenal medullary cells, suggesting pheochromocytoma

increased ganglioneuroma incidence ( J:80323 )

increased gangliosarcoma incidence ( J:80323 )

abnormal sympathetic ganglion morphology ( J:80323 )

• massively enlarged sympathetic ganglia that consist of axons that stain for neurofilament and small cell bodies with large nuclei that express tyrosine hydroxylase, a morphology consistent with ganglioneuroma or ganglioneurosarcoma

endocrine/exocrine glands

abnormal adrenal gland morphology ( J:80323 )

abnormal adrenal cortex morphology ( J:80323 )

• a thinning and distortion of the adrenal cortex

thin adrenal cortex ( J:80323 )

abnormal adrenergic chromaffin cell morphology ( J:80323 )

• increase in the number of adrenal medullary cells, suggesting pheochromocytoma

enlarged adrenal glands ( J:80323 )

increased pheochromocytoma incidence ( J:80323 )

neoplasm

increased tumor incidence ( J:80323 )

• develop tumors of neural crest origin such as ganglioneuroma, ganglioneurosarcoma, and pheochromocytoma

increased pheochromocytoma incidence ( J:80323 )

increased ganglioneuroma incidence ( J:80323 )

increased gangliosarcoma incidence ( J:80323 )

cardiovascular system

cardiovascular system phenotype ( J:80323 )

N	• normal cardiac development

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neurofibromatosis 1		DOID:0111253	OMIM:162200	J:80323

Allelic Composition	Col1a1^{tm1(tetO-EWSR1/ATF1)Yasu}/Col1a1⁺ Gt(ROSA)26Sor^{tm1(rtTA*M2)Jae}/Gt(ROSA)26Sor^tm1(EYFP)Cos Tg(Mpz-cre)94Imeg/0
Genetic Background	involves: 129S4/SvJae * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col1a1^{tm1(tetO-EWSR1/ATF1)Yasu} mutation (0 available); any Col1a1 mutation (160 available)
Gt(ROSA)26Sor^tm1(EYFP)Cos mutation (11 available); any Gt(ROSA)26Sor mutation (942 available)
Gt(ROSA)26Sor^{tm1(rtTA*M2)Jae} mutation (30 available); any Gt(ROSA)26Sor mutation (942 available)
Tg(Mpz-cre)94Imeg mutation (0 available)

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

neoplasm

increased sarcoma incidence ( J:194505 )

• in of all doxycycline-treated mice arising from neural crest-lineage cells

Allelic Composition	Gjb2^tm1Kkam/Gjb2^tm1Kkam Tg(Mpz-cre)94Imeg/0
Genetic Background	involves: 129S4/SvJae * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjb2^tm1Kkam mutation (0 available); any Gjb2 mutation (21 available)
Tg(Mpz-cre)94Imeg mutation (0 available)

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

hearing/vestibular/ear

abnormal cochlea morphology ( J:209627 )

• cochleae show fragmented, small vesicle-like gap junction plaques resulting in diminished total plaque areas at E17.5

• gap junction plaque disruption is already seen at the initial stage of formation at E14.5

• mice form gap junctions in the inner sulcus cells of the cochleae, although gap junctions are sometimes discontinuous with excessive endocytosis or abnormally condensed intermembrane layers around the gap junctions

• larger numbers of caveolae and vesicles are seen at cell borders of inner sulcus cells in 5 week old mutants

• an increase in caveolar structures is seen at the fragmented small vesicle-like gap junction plaques of cochleae, indicating endocytosis

abnormal ear physiology ( J:209627 )

• impaired ability to propagate calcium oscillations from cell to cell in the cochlea at P5 (S3), however the frequency of calcium oscillations do not change

increased or absent threshold for auditory brainstem response ( J:209627 )

• auditory brainstem response recordings show a threshold shift for both 8 kHz and 20 kHz in 7 week old mutants

sensorineural hearing loss ( J:209627 )

• severe sensorineural hearing loss

cellular

abnormal plasma membrane morphology ( J:209627 )

• larger numbers of caveolae and vesicles are seen at cell borders of inner sulcus cells in 5 week old mutants

• an increase in caveolar structures is seen at the fragmented small vesicle-like gap junction plaques of cochleae, indicating endocytosis

Allelic Composition	Smo^tm2Amc/Smo^tm2.1Amc Tg(Mpz-cre)94Imeg/0
Genetic Background	involves: 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smo^tm2.1Amc mutation (0 available); any Smo mutation (39 available)
Smo^tm2Amc mutation (1 available); any Smo mutation (39 available)
Tg(Mpz-cre)94Imeg mutation (0 available)

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

cardiovascular system

abnormal cardiovascular development ( J:135134 )

• authors state that mice exhibit identical cardiac defects as observed in Smo^tm2Amc/Smo^tm2.1Amc Tg(Wnt1-cre)11Rth mice

Allelic Composition	Evc2^tm2.1Mis/Evc2^tm2.1Mis Tg(Mpz-cre)94Imeg/0
Genetic Background	involves: 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Evc2^tm2.1Mis mutation (0 available); any Evc2 mutation (47 available)
Tg(Mpz-cre)94Imeg mutation (0 available)

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

craniofacial

short lower incisors ( J:226455 )

• lower incisors showed slightly shorter length and relatively normal radio density

short upper incisors ( J:226455 )

• upper incisors were shorter than those in control littermates

abnormal tooth development ( J:226455 )

• at E18.5, pre-ameloblasts located in the posterior area of normal upper incisor are less differentiated with fully extended nuclei within ameloblasts

• at E18.5 deposition of extracellular matrix proteins surrounding ameloblasts is reduced

abnormal ameloblast morphology ( J:226455 )

• at E18.5 revealed that ameloblasts in mutant mice did not polarize appropriately when compared to those with control littermates

skeleton

short lower incisors ( J:226455 )

• lower incisors showed slightly shorter length and relatively normal radio density

short upper incisors ( J:226455 )

• upper incisors were shorter than those in control littermates

abnormal tooth development ( J:226455 )

• at E18.5, pre-ameloblasts located in the posterior area of normal upper incisor are less differentiated with fully extended nuclei within ameloblasts

• at E18.5 deposition of extracellular matrix proteins surrounding ameloblasts is reduced

abnormal ameloblast morphology ( J:226455 )

• at E18.5 revealed that ameloblasts in mutant mice did not polarize appropriately when compared to those with control littermates

growth/size/body

short lower incisors ( J:226455 )

• lower incisors showed slightly shorter length and relatively normal radio density

short upper incisors ( J:226455 )

• upper incisors were shorter than those in control littermates

abnormal tooth development ( J:226455 )

• at E18.5, pre-ameloblasts located in the posterior area of normal upper incisor are less differentiated with fully extended nuclei within ameloblasts

• at E18.5 deposition of extracellular matrix proteins surrounding ameloblasts is reduced

abnormal ameloblast morphology ( J:226455 )

• at E18.5 revealed that ameloblasts in mutant mice did not polarize appropriately when compared to those with control littermates

mortality/aging

mortality/aging ( J:226455 )

N	• did not notice lethality in the neural crest-specific mutant mice during the period of observation (up to 6 months)

Allelic Composition	Alk^{tm1.1(ALKF1174L)Heno}/Alk^{tm1.1(ALKF1174L)Heno} Tg(Mpz-cre)94Imeg/0 Tg(Th-MYCN)41Waw/0
Genetic Background	involves: 129X1/SvJ * BALB/c * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alk^{tm1.1(ALK*F1174L)Heno} mutation (0 available); any Alk mutation (62 available)
Tg(Mpz-cre)94Imeg mutation (0 available)
Tg(Th-MYCN)41Waw mutation (2 available)

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

mortality/aging

premature death ( J:294092 )

• mice show enhanced lethality compared to single Tg(Th-MYCN)41Waw expressing mice

neoplasm

increased neuroblastoma incidence ( J:294092 )

• mice develop neuroblastoma with earlier onset, higher penetrance and enhanced lethality than in single Tg(Th-MYCN)41Waw expressing mice

decreased tumor latency ( J:294092 )

• mice show earlier onset of neuroblastoma than in single Tg(Th-MYCN)41Waw expressing mice

nervous system

increased neuroblastoma incidence ( J:294092 )

• mice develop neuroblastoma with earlier onset, higher penetrance and enhanced lethality than in single Tg(Th-MYCN)41Waw expressing mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neuroblastoma		DOID:769		J:294092

Allelic Composition	Alk^{tm1.1(ALK*F1174L)Heno}/Alk⁺ Tg(Mpz-cre)94Imeg/0 Tg(Th-MYCN)41Waw/0
Genetic Background	involves: 129X1/SvJ * BALB/c * C57BL/6 * SJL

Find Mice

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

mortality/aging

decreased tumor-free survival time ( J:294092 )

• mice that develop thoracic and/or abdominal tumors die by 6 months

neoplasm

increased neuroblastoma incidence ( J:294092 )

• 17 of 18 mice develop bulky thoracic and/or abdominal tumors, with tumors showing features characteristic of neuroblastoma

• 14 of 18 mice exhibit abdominal tumors

• 4 of 18 mice exhibit thoracic tumors

• 2 of 18 mice exhibit both abdominal and thoracic tumors

nervous system

increased neuroblastoma incidence ( J:294092 )

• 17 of 18 mice develop bulky thoracic and/or abdominal tumors, with tumors showing features characteristic of neuroblastoma

• 14 of 18 mice exhibit abdominal tumors

• 4 of 18 mice exhibit thoracic tumors

• 2 of 18 mice exhibit both abdominal and thoracic tumors

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neuroblastoma		DOID:769		J:294092

Allelic Composition	Alk^{tm1.1(ALKF1174L)Heno}/Alk^{tm1.1(ALKF1174L)Heno} Tg(Mpz-cre)94Imeg/0
Genetic Background	involves: 129X1/SvJ * C57BL/6 * C57BL/6N * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alk^{tm1.1(ALK*F1174L)Heno} mutation (0 available); any Alk mutation (62 available)
Tg(Mpz-cre)94Imeg mutation (0 available)

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

nervous system

abnormal sympathetic ganglion morphology ( J:294092 )

• increase in proliferation of sympathetic ganglion progenitors

enlarged superior cervical ganglion ( J:294092 )

• size of the sympathetic ganglia (superior cervical ganglia) is larger at E13.5

• increase in cell numbers in superior cervical ganglia

neoplasm

neoplasm ( J:294092 )

N	• mice show no overt signs of tumorigenesis

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

mortality/aging

decreased survivor rate ( J:192670 )

• about 80% die soon after birth while 20% survive; those surviving do not exhibit cleft but have shorter faces

neonatal lethality, incomplete penetrance ( J:192670 )

• about 80% die soon after birth due to facial cleft and cleft palate, however mice without cleft survive

embryo

abnormal head mesenchyme morphology ( J:192670 )

• mutants show an increase in apoptosis in the developing frontal bone primordial mesenchymal cells at E10.5

• mutants exhibit a reduction in the number of frontal bone primordial cells at E12.5 but no changes in apoptosis or proliferation at this time

• the frontal bone primordial cells form the frontal bone matrix normally and differentiate into the frontal bones at E15.5, but their sizes are smaller

abnormal frontonasal mesenchyme morphology ( J:192670 )

• cell density of the frontonasal mesenchyme is lower than in controls at E10.5 but not at E9.5

• an increase in apoptosis is seen in the frontonasal mesenchyme at E10.5

• however, proliferation is normal in this area

craniofacial

abnormal neurocranium morphology ( J:192670 )

• calvarial ossification defects are seen in 3 week old mice showing calvarial foramina

large anterior fontanelle ( J:192670 )

• 100% of mice exhibit wide-open anterior fontanelles at birth

small frontal bone ( J:192670 )

• newborns show reduced size of the frontal bones in the presence and absence of cleft face and cleft palate

abnormal craniofacial development ( J:192670 )

• nasal processes are smaller at E10.5

• 77.8% of E11.5 embryos show an abnormally unfused nasal process

abnormal facial morphology ( J:192670 )

• 83.3% of newborns have midline fusion defects, cleft face and cleft palate

• mice without cleft have a short face, with facial length 0.87-fold shorter than controls at 3 weeks of age

abnormal nasal bone morphology ( J:192670 )

• mice with cleft face and cleft palate exhibit more severe defects in craniofacial bone formation than those without, showing nasal bone dysplasia and septal cartilage separation

short face ( J:192670 )

• mice without cleft have a short face, with facial length 0.87-fold shorter than controls at 3 weeks of age

cleft palate ( J:192670 )

• 83.3% of newborns have midline fusion defects, cleft face and cleft palate

abnormal nasal septum morphology ( J:192670 )

• mice with cleft face and cleft palate exhibit more severe defects in craniofacial bone formation than those without, showing nasal bone dysplasia and septal cartilage separation

facial cleft ( J:192670 )

• 83.3% of newborns have midline fusion defects, cleft face and cleft palate

• 75% of embryos exhibit facial cleft at E13.5 and E15.5 (after completion of upper lip formation)

midline facial cleft ( J:192670 )

cardiovascular system

ventricular septal defect ( J:192670 )

• 50% of mutants with facial cleft exhibit a ventricular septum defect

digestive/alimentary system

cleft palate ( J:192670 )

• 83.3% of newborns have midline fusion defects, cleft face and cleft palate

integument

belly spot ( J:192670 )

• 28.6% of surviving mice without cleft face or cleft palate exhibit a belly spot

behavior/neurological

abnormal suckling behavior ( J:192670 )

• midline fusion defects affect suckling but not breathing

pigmentation

belly spot ( J:192670 )

• 28.6% of surviving mice without cleft face or cleft palate exhibit a belly spot

respiratory system

abnormal nasal bone morphology ( J:192670 )

• mice with cleft face and cleft palate exhibit more severe defects in craniofacial bone formation than those without, showing nasal bone dysplasia and septal cartilage separation

abnormal nasal septum morphology ( J:192670 )

• mice with cleft face and cleft palate exhibit more severe defects in craniofacial bone formation than those without, showing nasal bone dysplasia and septal cartilage separation

vision/eye

ocular hypertelorism ( J:192670 )

• distance between the eyes is 1.1-fold greater in mice at 3 weeks of age than in controls

skeleton

abnormal neurocranium morphology ( J:192670 )

• calvarial ossification defects are seen in 3 week old mice showing calvarial foramina

large anterior fontanelle ( J:192670 )

• 100% of mice exhibit wide-open anterior fontanelles at birth

small frontal bone ( J:192670 )

• newborns show reduced size of the frontal bones in the presence and absence of cleft face and cleft palate

abnormal nasal bone morphology ( J:192670 )

• mice with cleft face and cleft palate exhibit more severe defects in craniofacial bone formation than those without, showing nasal bone dysplasia and septal cartilage separation

abnormal bone ossification ( J:192670 )

• 3 week old mutants show calvarial ossification defects between the frontal bones

growth/size/body

abnormal facial morphology ( J:192670 )

• 83.3% of newborns have midline fusion defects, cleft face and cleft palate

• mice without cleft have a short face, with facial length 0.87-fold shorter than controls at 3 weeks of age

abnormal nasal bone morphology ( J:192670 )

• mice with cleft face and cleft palate exhibit more severe defects in craniofacial bone formation than those without, showing nasal bone dysplasia and septal cartilage separation

short face ( J:192670 )

• mice without cleft have a short face, with facial length 0.87-fold shorter than controls at 3 weeks of age

cleft palate ( J:192670 )

• 83.3% of newborns have midline fusion defects, cleft face and cleft palate

abnormal nasal septum morphology ( J:192670 )

• mice with cleft face and cleft palate exhibit more severe defects in craniofacial bone formation than those without, showing nasal bone dysplasia and septal cartilage separation

facial cleft ( J:192670 )

• 83.3% of newborns have midline fusion defects, cleft face and cleft palate

• 75% of embryos exhibit facial cleft at E13.5 and E15.5 (after completion of upper lip formation)

midline facial cleft ( J:192670 )

abnormal head mesenchyme morphology ( J:192670 )

• mutants show an increase in apoptosis in the developing frontal bone primordial mesenchymal cells at E10.5

• mutants exhibit a reduction in the number of frontal bone primordial cells at E12.5 but no changes in apoptosis or proliferation at this time

• the frontal bone primordial cells form the frontal bone matrix normally and differentiate into the frontal bones at E15.5, but their sizes are smaller

abnormal frontonasal mesenchyme morphology ( J:192670 )

• cell density of the frontonasal mesenchyme is lower than in controls at E10.5 but not at E9.5

• an increase in apoptosis is seen in the frontonasal mesenchyme at E10.5

• however, proliferation is normal in this area

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
chromosome 10q23 deletion syndrome	DOID:0060389	OMIM:612242	J:192670
juvenile polyposis syndrome	DOID:0050787	OMIM:174900	J:192670

Allelic Composition	Cdc42^tm1.1Ayam/Cdc42^tm1.1Ayam Tg(Mpz-cre)94Imeg/0
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdc42^tm1.1Ayam mutation (0 available); any Cdc42 mutation (43 available)
Tg(Mpz-cre)94Imeg mutation (0 available)

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:250065 )

• nearly all die within 1 day of birth and appear weak with no milk in their stomachs

behavior/neurological

absent gastric milk in neonates ( J:250065 )

craniofacial

abnormal craniofacial bone morphology ( J:250065 )

• severe deformities in the cranial bones

abnormal frontal bone morphology ( J:250065 )

• either reduced ossification or hypoplastic at E16.5 and e18.5

abnormal mandible morphology ( J:250065 )

maxillary shelf hypoplasia ( J:250065 )

• at E16.5 and E18.5

abnormal premaxilla morphology ( J:250065 )

• unfused nasal capsule

short premaxilla ( J:250065 )

short maxilla ( J:250065 )

abnormal nasal bone morphology ( J:250065 )

palatine bone horizontal plate hypoplasia ( J:250065 )

• at E16.5 and E18.5

abnormal medial nasal prominence morphology ( J:250065 )

• at E12.5 and E13.5, medial nasal processes fail to merge

abnormal secondary palate development ( J:250065 )

• at E15.5 coalescence of the palatal shelves is not seen

• however, up to E14.5 palatal shelf development appears similar to controls

absent palatal shelf ( J:250065 )

• absence of palatal shelves associated with hypoplastic palatine bone

cleft palate ( J:250065 )

• in all mice

failure of palatal shelf elevation ( J:250065 )

abnormal nasal septum morphology ( J:250065 )

• at E12.5 and E13.5 the nasal septum is divided into right and left in the anterior position

short snout ( J:250065 )

• in 13 of 15 mice

facial cleft ( J:250065 )

• in 13 of 15 mice

cardiovascular system

intracranial hemorrhage ( J:250065 )

• occasionally seen

nervous system

intracranial hemorrhage ( J:250065 )

• occasionally seen

digestive/alimentary system

maxillary shelf hypoplasia ( J:250065 )

• at E16.5 and E18.5

palatine bone horizontal plate hypoplasia ( J:250065 )

• at E16.5 and E18.5

abnormal secondary palate development ( J:250065 )

• at E15.5 coalescence of the palatal shelves is not seen

• however, up to E14.5 palatal shelf development appears similar to controls

absent palatal shelf ( J:250065 )

• absence of palatal shelves associated with hypoplastic palatine bone

cleft palate ( J:250065 )

• in all mice

failure of palatal shelf elevation ( J:250065 )

growth/size/body

maxillary shelf hypoplasia ( J:250065 )

• at E16.5 and E18.5

abnormal nasal bone morphology ( J:250065 )

palatine bone horizontal plate hypoplasia ( J:250065 )

• at E16.5 and E18.5

abnormal secondary palate development ( J:250065 )

• at E15.5 coalescence of the palatal shelves is not seen

• however, up to E14.5 palatal shelf development appears similar to controls

absent palatal shelf ( J:250065 )

• absence of palatal shelves associated with hypoplastic palatine bone

cleft palate ( J:250065 )

• in all mice

failure of palatal shelf elevation ( J:250065 )

abnormal nasal septum morphology ( J:250065 )

• at E12.5 and E13.5 the nasal septum is divided into right and left in the anterior position

short snout ( J:250065 )

• in 13 of 15 mice

facial cleft ( J:250065 )

• in 13 of 15 mice

skeleton

abnormal craniofacial bone morphology ( J:250065 )

• severe deformities in the cranial bones

abnormal frontal bone morphology ( J:250065 )

• either reduced ossification or hypoplastic at E16.5 and e18.5

abnormal mandible morphology ( J:250065 )

maxillary shelf hypoplasia ( J:250065 )

• at E16.5 and E18.5

abnormal premaxilla morphology ( J:250065 )

• unfused nasal capsule

short premaxilla ( J:250065 )

short maxilla ( J:250065 )

abnormal nasal bone morphology ( J:250065 )

palatine bone horizontal plate hypoplasia ( J:250065 )

• at E16.5 and E18.5

respiratory system

abnormal nasal bone morphology ( J:250065 )

abnormal nasal septum morphology ( J:250065 )

• at E12.5 and E13.5 the nasal septum is divided into right and left in the anterior position

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cleft palate		DOID:674		J:250065

Allelic Composition	Hand1^tm3Abfi/Hand1⁺ Tg(Mpz-cre)94Imeg/0
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hand1^tm3Abfi mutation (1 available); any Hand1 mutation (14 available)
Tg(Mpz-cre)94Imeg mutation (0 available)

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

craniofacial

small frontal bone ( J:214092 )

• reduced size of frontal bones at E18.5, leading to a gap between the left and right frontal bones

small nasal bone ( J:214092 )

• reduced size of nasal bones at E18.5

abnormal nasal capsule morphology ( J:214092 )

• fusion of the nasal capsule is nearly complete at E18.5 although not phenotypically normal

abnormal palate development ( J:214092 )

• palate formation is improved compared to heterozygous Hand1^tm3Abfi Tg(Wnt1-cre)2Sor mice

digestive/alimentary system

abnormal palate development ( J:214092 )

• palate formation is improved compared to heterozygous Hand1^tm3Abfi Tg(Wnt1-cre)2Sor mice

growth/size/body

small nasal bone ( J:214092 )

• reduced size of nasal bones at E18.5

abnormal nasal capsule morphology ( J:214092 )

• fusion of the nasal capsule is nearly complete at E18.5 although not phenotypically normal

abnormal palate development ( J:214092 )

• palate formation is improved compared to heterozygous Hand1^tm3Abfi Tg(Wnt1-cre)2Sor mice

respiratory system

small nasal bone ( J:214092 )

• reduced size of nasal bones at E18.5

abnormal nasal capsule morphology ( J:214092 )

• fusion of the nasal capsule is nearly complete at E18.5 although not phenotypically normal

skeleton

small frontal bone ( J:214092 )

• reduced size of frontal bones at E18.5, leading to a gap between the left and right frontal bones

small nasal bone ( J:214092 )

• reduced size of nasal bones at E18.5

abnormal nasal capsule morphology ( J:214092 )

• fusion of the nasal capsule is nearly complete at E18.5 although not phenotypically normal

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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